228 recessive genetic disorders identified by Hiro Clinic

Regarding the Test for 228 Types of Recessive Genetic Disorders

At Hiro Clinic, we offer a test that can examine 228 genes associated with severe recessive genetic disorders before birth.

Recessive genetic disorders are conditions that occur when there is an abnormality in the genes.
In this test, to determine whether both parents carry gene abnormalities, genes are extracted and analyzed from the oral mucosa of the mother and father.
By testing whether both parents have abnormalities in the same gene location, it is possible to predict the risk of the fetus having a severe genetic disorder.
For example, if both parents have abnormalities in the same gene, the child is at higher risk of developing a recessive genetic disorder (about 25%). If the test result is positive, amniocentesis is necessary as a confirmatory test.

So, what kind of test is conducted for such individuals? Also, what kind of disorders are identified?

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It is recommended that couples/couples consider genetic testing

Hiro Clinic recommends that you undergo 228 different recessive gene tests. This allows you to find out about conditions that may be inherited by your child before birth. Knowing this information can be useful for future health and family planning, enabling you to plan early measures and support.

Benefits

Comprehensive risk assessment
The genetic information of the couple or couples can be used to extensively assess and take necessary action for diseases that may be inherited by their children.

Family planning support
Support decision-making to take genetic risk into account in future family planning.

Optimising preventive measures
Optimising preventive measures: individualised preventive measures and early intervention can be planned based on identified genetic risks.

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We recommend that you consider taking a genetic test for your newborn baby

Having your newborn baby undergo recessive genetic testing is one way to support your child’s health and future well-being. The test allows for early identification of genetic risks and, if necessary, appropriate preventive measures and treatment can be initiated immediately. At Hiro Clinic, we prioritise your child’s safety and comfort and use state-of-the-art technology to offer a painless ‘just rub the stick of the kit on the buccal mucosa (cheek in the mouth)’ test.

Benefits

Early detection
Screening for 228 recessive genetic conditions to detect potential risks to your child’s health at an early stage.

Individualised health care
Based on the test results, specific health care and treatment needs can be planned for your child.

Family security
Clear information about your child’s health status can help ease family anxiety.

Special limited price for those who have undergone Hiro Clinic NIPT
Hiro Clinic offers 228 recessive genetic tests at a special price to those who have undergone NIPT.
More information

If you have not undergone NIPT, don’t worry
228 recessive genetic tests are also available for those who have not undergone NIPT at Hiro Clinic.
More information

Inspection process

Step 1

Apply for an inspection at the clinic

The consent form of the pregnant woman and her partner will be included in the application
The test kit is shipped to your home (takes about one week from the visit)
※Pregnant women and their partners must come to the clinic together
Step 2

The test kit is delivered to your home

Test kits are enclosed with test sets for pregnant women and their partners
Step 3

Do the test at home

Rub the shaft part of the test kit on the buccal mucosa (oral cheek) to collect cells
Step 4

Return of test kits

Place the collected specimen in a letter-pack and post it in your local post box
Step 5

Inspection report

We will report back to you by email in about a month
※This is a separate report from the national tests conducted by drawing blood from pregnant women
※Tests are reported approximately one month after the returned test kit arrives at the laboratory

Optional Fees for 228 Types of Recessive Gene Tests
Available

228 Types of Recessive Gene Tests - PC Display
228 Types of Recessive Gene Tests - SP Display

How recessive genetic disorders develop

Humans have two chromosomes, one of maternal origin and one of paternal origin.

A recessive genetic disorder is a disease that develops when two chromosomes are abnormal in the same place. If one of the chromosomes of maternal or paternal origin is abnormal, but the other chromosome is not abnormal, the disease does not occur. In that case, the individual is said to be a carrier of the relevant genetic disorder.

Carriers are the ones who have been told since ancient times that they should not have children by blood.

For example, if there is a rare disease that affects only one in 40 000 people, it is estimated that there is one carrier in every 100 people.

This is because the calculation is ‘1 in 100 x 1 in 100 x 1 in 4 = 1 in 40,000’.

If we test 100 places for one disease in 40,000 people, this means that theoretically everyone could be a carrier of one disease.

So what happens if our test shows an abnormality in the same place in both parents’ genes?

Answer is

  • One in four foetuses will develop the disease.
  • One in two people will be a carrier.
  • One in four individuals will be normal.

How can it be found out?

At present, the most accurate one is the amniotic fluid test.

This amniotic fluid test requires genetic analysis. Tokyo Hygienic Laboratory carries out this analysis in collaboration with Medicover in Cyprus.

If you have amniotic fluid testing support, the test usually costs less than 200 000 yen, so there is no cost burden.
Please contact Hiro Clinic for more information on amniotic fluid testing.

The 228 recessive genetic disorders are the following diseases.

Hiro Clinic NIPT can tell you about
Recessive genetic disorders

3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

 

Disease name

  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
 

Genes that can be tested at the clinic

  • HMGCL
 

Chromosomes that occur

  • 1p36.1
picture
 
picture
 
picture
More information

3-Methylcrotonyl-CoA Carboxylase Deficiency 1

 

Disease name

  • 3-Methylcrotonyl-CoA Carboxylase Deficiency 1
 

Genes that can be tested at the clinic

  • MCCC1
 

Chromosomes that occur

  • 3q27.1
picture
 
picture
 
picture
More information

3-Methylcrotonyl-CoA Carboxylase Deficiency 2

 

Disease name

  • 3-Methylcrotonyl-CoA Carboxylase Deficiency 2
 

Genes that can be tested at the clinic

  • MCCC2
 

Chromosomes that occur

  • 5q13.2
picture
 
picture
 
picture
More information

Abetalipoproteinemia

 

Disease name

  • Abetalipoproteinemia
 

Genes that can be tested at the clinic

  • MTTP
 

Chromosomes that occur

  • 4q23
picture
 
picture
 
picture
More information

Acyl-CoA Oxidase I Deficiency

 

Disease name

  • Acyl-CoA Oxidase I Deficiency
 

Genes that can be tested at the clinic

  • ACOX1
 

Chromosomes that occur

  • 17q25.1
picture
 
picture
 
picture
More information

Chorea-acanthocytosis

 

Disease name

  • Chorea-acanthocytosis
 

Genes that can be tested at the clinic

  • VPS13A
 

Chromosomes that occur

  • 9q21.2
picture
 
picture
 
picture
More information

Choroideremia, X-Linked

 

Disease name

  • Choroideremia, X-Linked
 

Genes that can be tested at the clinic

  • CHM
 

Chromosomes that occur

  • Xq21.2
picture
 
picture
 
picture
More information

Citrin Deficiency

 

Disease name

  • Citrin Deficiency
 

Genes that can be tested at the clinic

  • SLC25A13
 

Chromosomes that occur

  • 7q21.3
picture
 
picture
 
picture
More information

Combined Oxidative Phosphorylation Deficiency 3

 

Disease name

  • Combined Oxidative Phosphorylation Deficiency 3
 

Genes that can be tested at the clinic

  • TSFM
 

Chromosomes that occur

  • 12q14.1
picture
 
picture
 
picture
More information

Congenital Disorder of Glycosylation, Type 1A (PMM2-related)

 

Disease name

  • Congenital Disorder of Glycosylation, Type 1A (PMM2-related)
 

Genes that can be tested at the clinic

  • PMM2
 

Chromosomes that occur

  • 16p13.2
picture
 
picture
 
picture
More information

Hereditary Fructose Intolerance

 

Disease name

  • Hereditary Fructose Intolerance
 

Genes that can be tested at the clinic

  • ALDOB
 

Chromosomes that occur

  • 9q31.1
picture
 
picture
 
picture
More information

Homocystinuria, Type cblE

 

Disease name

  • Homocystinuria, Type cblE
 

Genes that can be tested at the clinic

  • MTRR
 

Chromosomes that occur

  • 5p15.31
picture
 
picture
 
picture
More information

Hydrolethalus Syndrome

 

Disease name

  • Hydrolethalus Syndrome
 

Genes that can be tested at the clinic

  • HYLS1
 

Chromosomes that occur

  • 11q24.2
picture
 
picture
 
picture
More information

Inclusion Body Myopathy, Type 2

 

Disease name

  • Inclusion Body Myopathy, Type 2
 

Genes that can be tested at the clinic

  • GNE
 

Chromosomes that occur

  • 9p13.3
picture
 
picture
 
picture
More information

Isovaleric Acidemia

 

Disease name

  • Isovaleric Acidemia
 

Genes that can be tested at the clinic

  • IVD
 

Chromosomes that occur

  • 15q15.1
picture
 
picture
 
picture
More information

Methylmalonic Aciduria, Type Mut(0)

 

Disease name

  • Methylmalonic Aciduria, Type Mut(0)
 

Genes that can be tested at the clinic

  • MMACHC
 

Chromosomes that occur

  • 1p34.1
picture
 
picture
 
picture
More information

Methylmalonic Aciduria and Homocystinuria, Type cblD

 

Disease name

  • Methylmalonic Aciduria and Homocystinuria, Type cblD
 

Genes that can be tested at the clinic

  • MMADHC
 

Chromosomes that occur

  • 2q23.2
picture
 
picture
 
picture
More information

Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked

 

Disease name

  • Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked
 

Genes that can be tested at the clinic

  • IDS
 

Chromosomes that occur

  • Xq28
picture
 
picture
 
picture
More information

Mucopolysaccharidosis, Type IIIC [Sanfilippo C]

 

Disease name

  • Mucopolysaccharidosis, Type IIIC [Sanfilippo C]
 

Genes that can be tested at the clinic

  • HGSNAT
 

Chromosomes that occur

  • 8p11.21-p11.1
picture
 
picture
 
picture
More information

Multiple Sulfatase Deficiency

 

Disease name

  • Multiple Sulfatase Deficiency
 

Genes that can be tested at the clinic

  • SUMF1
 

Chromosomes that occur

  • 3p26
picture
 
picture
 
picture
More information

Primary Ciliary Dyskinesia (DNAH5-related)

 

Disease name

  • Primary Ciliary Dyskinesia (DNAH5-related)
 

Genes that can be tested at the clinic

  • DNAH5
 

Chromosomes that occur

  • 5p15.2
picture
 
picture
 
picture
More information

Primary Ciliary Dyskinesia (DNAI1-related)

 

Disease name

  • Primary Ciliary Dyskinesia (DNAI1-related)
 

Genes that can be tested at the clinic

  • DNAI1
 

Chromosomes that occur

  • 14q24.3
picture
 
picture
 
picture
More information

Primary Hyperoxaluria, Type 3

 

Disease name

  • Primary Hyperoxaluria, Type 3
 

Genes that can be tested at the clinic

  • HOGA1
 

Chromosomes that occur

  • 10q24.2
picture
 
picture
 
picture
More information

Pycnody sostosis

 

Disease name

  • Pycnody sostosis
 

Genes that can be tested at the clinic

  • CTSK
 

Chromosomes that occur

  • 1q21.3
picture
 
picture
 
picture
More information

Pyruvate Dehydrogenase Deficiency (PDHB-Related)

 

Disease name

  • Pyruvate Dehydrogenase Deficiency (PDHB-Related)
 

Genes that can be tested at the clinic

  • PDHB
 

Chromosomes that occur

  • 3p14.3
picture
 
picture
 
picture
More information

Aicardi-Goutières Syndrome

 

Disease name

  • Aicardi-Goutières Syndrome
 

Genes that can be tested at the clinic

  • SAMHD1
 

Chromosomes that occur

  • 20q11.23
picture
 
picture
 
picture
More information

Alport Syndrome, X-Linked

 

Disease name

  • Alport Syndrome, X-Linked
 

Genes that can be tested at the clinic

  • COL4A5
 

Chromosomes that occur

  • Xq22.3
picture
 
picture
 
picture
More information

Alstrom Syndrome

 

Disease name

  • Alstrom Syndrome
 

Genes that can be tested at the clinic

  • ALMS1
 

Chromosomes that occur

  • 2p13.1
picture
 
picture
 
picture
More information

Andermann Syndrome

 

Disease name

  • Andermann Syndrome
 

Genes that can be tested at the clinic

  • SLC12A6
 

Chromosomes that occur

  • 15q14
picture
 
picture
 
picture
More information

Aromatase Deficiency

 

Disease name

  • Aromatase Deficiency
 

Genes that can be tested at the clinic

  • CYP19A1
 

Chromosomes that occur

  • 15q21.2
picture
 
picture
 
picture
More information

Congenital Neutropenia (HAX1-related)

 

Disease name

  • Congenital Neutropenia (HAX1-related)
 

Genes that can be tested at the clinic

  • HAX1
 

Chromosomes that occur

  • 1q21.3
picture
 
picture
 
picture
More information

Crigler Najjar Syndrome, Type I

 

Disease name

  • Crigler Najjar Syndrome, Type I
 

Genes that can be tested at the clinic

  • UGT1A1
 

Chromosomes that occur

  • 2q37.1
picture
 
picture
 
picture
More information

Cystic Fibrosis

 

Disease name

  • Cystic Fibrosis
 

Genes that can be tested at the clinic

  • CFTR
 

Chromosomes that occur

  • 7q31.2
picture
 
picture
 
picture
More information

Factor XI Deficiency

 

Disease name

  • Factor XI Deficiency
 

Genes that can be tested at the clinic

  • F11
 

Chromosomes that occur

  • 4q35.2
picture
 
picture
 
picture
More information

Familial Dysautonomia

 

Disease name

  • Familial Dysautonomia
 

Genes that can be tested at the clinic

  • IKBKAP
 

Chromosomes that occur

  • 9q31.3
picture
 
picture
 
picture
More information

Joubert Syndrome, Type 2

 

Disease name

  • Joubert Syndrome, Type 2
 

Genes that can be tested at the clinic

  • LAMC2
 

Chromosomes that occur

  • 1q25.3
picture
 
picture
 
picture
More information

Junctional Epidermolysis Bullosa, Herlitz Type

 

Disease name

  • Junctional Epidermolysis Bullosa, Herlitz Type
 

Genes that can be tested at the clinic

  • LAMC2
 

Chromosomes that occur

  • 1q25.3
picture
 
picture
 
picture
More information

Lamellar Ichthyosis, Type 1

 

Disease name

  • Lamellar Ichthyosis, Type 1
 

Genes that can be tested at the clinic

  • TGM1
 

Chromosomes that occur

  • 14q12
picture
 
picture
 
picture
More information

Leber Congenital Amaurosis (LCA5-related)

 

Disease name

  • Leber Congenital Amaurosis (LCA5-related)
 

Genes that can be tested at the clinic

  • LCA5
 

Chromosomes that occur

  • 6q14.1
picture
 
picture
 
picture
More information

Leigh Syndrome, French-Canadian Type

 

Disease name

  • Leigh Syndrome, French-Canadian Type
 

Genes that can be tested at the clinic

  • LRPPRC
 

Chromosomes that occur

  • 2p21
picture
 
picture
 
picture
More information

Myotubular Myopathy, X-Linked

 

Disease name

  • Myotubular Myopathy, X-Linked
 

Genes that can be tested at the clinic

  • MTM1
 

Chromosomes that occur

  • Xq28
picture
 
picture
 
picture
More information

Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]

 

Disease name

  • Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome]
 

Genes that can be tested at the clinic

  • MPV17
 

Chromosomes that occur

  • 2p23.3
picture
 
picture
 
picture
More information

Neuronal Ceroid Lipofuscinosis (CLN8-related)

 

Disease name

  • Neuronal Ceroid Lipofuscinosis (CLN8-related)
 

Genes that can be tested at the clinic

  • CLN8
 

Chromosomes that occur

  • 8p23
picture
 
picture
 
picture
More information

Neuronal Ceroid Lipofuscinosis (MFSD8-related)

 

Disease name

  • Neuronal Ceroid Lipofuscinosis (MFSD8-related)
 

Genes that can be tested at the clinic

  • MFSD8
 

Chromosomes that occur

  • 4q28.2
picture
 
picture
 
picture
More information

Neuronal Ceroid Lipofuscinosis (TPP1-related)

 

Disease name

  • Neuronal Ceroid Lipofuscinosis (TPP1-related)
 

Genes that can be tested at the clinic

  • TPP1
 

Chromosomes that occur

  • 11p15.4
picture
 
picture
 
picture
More information

Nijmegen Breakage Syndrome

 

Disease name

  • Nijmegen Breakage Syndrome
 

Genes that can be tested at the clinic

  • NBN
 

Chromosomes that occur

  • 8q21.3
picture
 
picture
 
picture
More information

Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy]

 

Disease name

  • Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy]
 

Genes that can be tested at the clinic

  • RLBP1
 

Chromosomes that occur

  • 15q26.1
picture
 
picture
 
picture
More information

Retinitis Pigmentosa 25 (EYS-related)

 

Disease name

  • Retinitis Pigmentosa 25 (EYS-related)
 

Genes that can be tested at the clinic

  • EYS
 

Chromosomes that occur

  • 6q12
picture
 
picture
 
picture
More information

Retinitis Pigmentosa 59 (DHDDS-related)

 

Disease name

  • Retinitis Pigmentosa 59 (DHDDS-related)
 

Genes that can be tested at the clinic

  • DHDDS
 

Chromosomes that occur

  • 1p36.11
picture
 
picture
 
picture
More information

Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]

 

Disease name

  • Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID]
 

Genes that can be tested at the clinic

  • GNS
 

Chromosomes that occur

  • 12q14.3
picture
 
picture
 
picture
More information

Severe Combined Immunodeficiency, Type Athabaskan

 

Disease name

  • Severe Combined Immunodeficiency, Type Athabaskan
 

Genes that can be tested at the clinic

  • DCLRE1C
 

Chromosomes that occur

  • 10p13
picture
 
picture
 
picture
More information

Arthrogryposis Mental Retardation Seizures

 

Disease name

  • Arthrogryposis Mental Retardation Seizures
 

Genes that can be tested at the clinic

  • SLC35A3
 

Chromosomes that occur

  • 1p21.2
picture
 
picture
 
picture
More information

Asparagine Synthetase Deficiency

 

Disease name

  • Asparagine Synthetase Deficiency
 

Genes that can be tested at the clinic

  • ASNS
 

Chromosomes that occur

  • 7q21.3
picture
 
picture
 
picture
More information

Aspartylglycosaminuria

 

Disease name

  • Aspartylglycosaminuria
 

Genes that can be tested at the clinic

  • AGA
 

Chromosomes that occur

  • 4q34.3
picture
 
picture
 
picture
More information

Autosomal Recessive Polycystic Kidney Disease

 

Disease name

  • Autosomal Recessive Polycystic Kidney Disease
 

Genes that can be tested at the clinic

  • PKHD1
 

Chromosomes that occur

  • 6p12.3-p12.2
picture
 
picture
 
picture
More information

Bardet-Biedl Syndrome (BBS1-related)

 

Disease name

  • Bardet-Biedl Syndrome (BBS1-related)
 

Genes that can be tested at the clinic

  • BBS1
 

Chromosomes that occur

  • 11q13.2
picture
 
picture
 
picture
More information

Fanconi Anemia, Type C

 

Disease name

  • Fanconi Anemia, Type C
 

Genes that can be tested at the clinic

  • FANCC
 

Chromosomes that occur

  • 9q22.32
picture
 
picture
 
picture
More information

Fanconi Anemia, Type G

 

Disease name

  • Fanconi Anemia, Type G
 

Genes that can be tested at the clinic

  • FANCG
 

Chromosomes that occur

  • 9p13.3
picture
 
picture
 
picture
More information

Gaucher Disease

 

Disease name

  • Gaucher Disease
 

Genes that can be tested at the clinic

  • GBA
 

Chromosomes that occur

  • 1q21
picture
 
picture
 
picture
More information

Glutaric Acidemia, Type 2A

 

Disease name

  • Glutaric Acidemia, Type 2A
 

Genes that can be tested at the clinic

  • ETFA
 

Chromosomes that occur

  • 15q24.2-q24.3
picture
 
picture
 
picture
More information

Glycine Encephalopathy (GLDC-related)

 

Disease name

  • Glycine Encephalopathy (GLDC-related)
 

Genes that can be tested at the clinic

  • GLDC
 

Chromosomes that occur

  • 9p24.1
picture
 
picture
 
picture
More information

Leukoencephalopathy with Vanishing White Matter

 

Disease name

  • Leukoencephalopathy with Vanishing White Matter
 

Genes that can be tested at the clinic

  • EIF2B5
 

Chromosomes that occur

  • 3q27.1
picture
 
picture
 
picture
More information

Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]

 

Disease name

  • Leydig Cell Hypoplasia [Luteinizing Hormone Resistance]
 

Genes that can be tested at the clinic

  • LHCGR
 

Chromosomes that occur

  • 2p16.3
picture
 
picture
 
picture
More information

Limb Girdle Muscular Dystrophy, Type 2E

 

Disease name

  • Limb Girdle Muscular Dystrophy, Type 2E
 

Genes that can be tested at the clinic

  • SGCB
 

Chromosomes that occur

  • 4q12
picture
 
picture
 
picture
More information

Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]

 

Disease name

  • Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3]
 

Genes that can be tested at the clinic

  • DLD
 

Chromosomes that occur

  • 7q31.1
picture
 
picture
 
picture
More information

Lipoprotein Lipase Deficiency

 

Disease name

  • Lipoprotein Lipase Deficiency
 

Genes that can be tested at the clinic

  • LPL
 

Chromosomes that occur

  • 8p21.3
picture
 
picture
 
picture
More information

Omenn Syndrome (RAG2-related)

 

Disease name

  • Omenn Syndrome (RAG2-related)
 

Genes that can be tested at the clinic

  • RAG2
 

Chromosomes that occur

  • 11p12
picture
 
picture
 
picture
More information

Ornithine Aminotransferase Deficiency

 

Disease name

  • Ornithine Aminotransferase Deficiency
 

Genes that can be tested at the clinic

  • OAT
 

Chromosomes that occur

  • 10q26.13
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picture
 
picture
More information

Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia -Homocitrullinuria (HHH) Syndrome]

 

Disease name

  • Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia -Homocitrullinuria (HHH) Syndrome]
 

Genes that can be tested at the clinic

  • SLC25A15
 

Chromosomes that occur

  • 13q14.11
picture
 
picture
 
picture
More information

Pendred Syndrome

 

Disease name

  • Pendred Syndrome
 

Genes that can be tested at the clinic

  • SLC26A4
 

Chromosomes that occur

  • 7q22.3
picture
 
picture
 
picture
More information

Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)

 

Disease name

  • Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)
 

Genes that can be tested at the clinic

  • PEX1
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More information

Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)

 

Disease name

  • Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)
 

Genes that can be tested at the clinic

  • PEX2
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More information

Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)

 

Disease name

  • Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related)
 

Genes that can be tested at the clinic

  • PEX1
 

Chromosomes that occur

  • 7q21.2
picture
 
picture
 
picture
More information

Severe Combined Immunodeficiency, X-Linked

 

Disease name

  • Severe Combined Immunodeficiency, X-Linked
 

Genes that can be tested at the clinic

  • IL2RG
 

Chromosomes that occur

  • Xq13.1
picture
 
picture
 
picture
More information

Sickle-Cell Disease

 

Disease name

  • Sickle-Cell Disease
 

Genes that can be tested at the clinic

  • HBB
 

Chromosomes that occur

  • 11p15.4
picture
 
picture
 
picture
More information

Sjögren-Larsson Syndrome

 

Disease name

  • Sjögren-Larsson Syndrome
 

Genes that can be tested at the clinic

  • ALDH3A2
 

Chromosomes that occur

  • 17p11.2
picture
 
picture
 
picture
More information

Steroid-Resistant Nephrotic Syndrome

 

Disease name

  • Steroid-Resistant Nephrotic Syndrome
 

Genes that can be tested at the clinic

  • NPHS2
 

Chromosomes that occur

  • 1q25.2
picture
 
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More information

Stuve-Wiedemann Syndrome

 

Disease name

  • Stuve-Wiedemann Syndrome
 

Genes that can be tested at the clinic

  • LIFR
 

Chromosomes that occur

  • 5p13.1
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More information

Bardet Biedl Syndrome (BBS12-related)

 

Disease name

  • Bardet Biedl Syndrome (BBS12-related)
 

Genes that can be tested at the clinic

  • BBS12
 

Chromosomes that occur

  • 4q27
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More information

Beta Thalassemia

 

Disease name

  • Beta Thalassemia
 

Genes that can be tested at the clinic

  • HBB
 

Chromosomes that occur

  • 11p15.4
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More information

Biotinidase Deficiency

 

Disease name

  • Biotinidase Deficiency
 

Genes that can be tested at the clinic

  • BTD
 

Chromosomes that occur

  • 3p25.1
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More information

Canavan Disease

 

Disease name

  • Canavan Disease
 

Genes that can be tested at the clinic

  • ASPA
 

Chromosomes that occur

  • 17p13.2
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More information

Carpenter Syndrome

 

Disease name

  • Carpenter Syndrome
 

Genes that can be tested at the clinic

  • RAB23
 

Chromosomes that occur

  • 6p12.1-p11.2
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More information

Glycogen Storage Disease, Type 1A(BBS12-related)

 

Disease name

  • Glycogen Storage Disease, Type 1A(BBS12-related)
 

Genes that can be tested at the clinic

  • G6PC
 

Chromosomes that occur

  • 17q21
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More information

Glycogen Storage Disease, Type 1B

 

Disease name

  • Glycogen Storage Disease, Type 1B
 

Genes that can be tested at the clinic

  • SLC37A4
 

Chromosomes that occur

  • 11q23.3
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More information

Glycogen Storage Disease, Type 3

 

Disease name

  • Glycogen Storage Disease, Type 3
 

Genes that can be tested at the clinic

  • AGL
 

Chromosomes that occur

  • 1p21.2
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More information

Glycogen Storage Disease, Type 7

 

Disease name

  • Glycogen Storage Disease, Type 7
 

Genes that can be tested at the clinic

  • BCS1L
 

Chromosomes that occur

  • 2q35
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More information

GRACILE Syndrome

 

Disease name

  • GRACILE Syndrome
 

Genes that can be tested at the clinic

  • BCS1L
 

Chromosomes that occur

  • 2q35
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More information

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

 

Disease name

  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
 

Genes that can be tested at the clinic

  • HADHA
 

Chromosomes that occur

  • 2p23
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More information

Lysinuric Protein Intolerance

 

Disease name

  • Lysinuric Protein Intolerance
 

Genes that can be tested at the clinic

  • SLC7A7
 

Chromosomes that occur

  • 14q11.2
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More information

Maple Syrup Urine Disease, Type 1B

 

Disease name

  • Maple Syrup Urine Disease, Type 1B
 

Genes that can be tested at the clinic

  • BCKDHB
 

Chromosomes that occur

  • 6q14.1
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More information

Methylmalonic Acidemia (MMAA-related)

 

Disease name

  • Methylmalonic Acidemia (MMAA-related)
 

Genes that can be tested at the clinic

  • MMAA
 

Chromosomes that occur

  • 4q31.21
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More information

Methylmalonic Aciduria and Homocystinuria, Type cblC

 

Disease name

  • Methylmalonic Aciduria and Homocystinuria, Type cblC
 

Genes that can be tested at the clinic

  • MMAA
 

Chromosomes that occur

  • 4q31.21
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More information

Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)

 

Disease name

  • Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related)
 

Genes that can be tested at the clinic

  • PEX2
 

Chromosomes that occur

  • 8q21.13
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More information

Phenylketonurea

 

Disease name

  • Phenylketonurea
 

Genes that can be tested at the clinic

  • PAH
 

Chromosomes that occur

  • 12q23.2
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More information

Pontocerebellar Hypoplasia, Type 1A

 

Disease name

  • Pontocerebellar Hypoplasia, Type 1A
 

Genes that can be tested at the clinic

  • VRK1
 

Chromosomes that occur

  • 14q32.2
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More information

Pontocerebellar Hypoplasia, Type 2D

 

Disease name

  • Pontocerebellar Hypoplasia, Type 2D
 

Genes that can be tested at the clinic

  • SEPSECS
 

Chromosomes that occur

  • 4p15.2
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More information

Pontocerebellar Hypoplasia, Type 2E

 

Disease name

  • Pontocerebellar Hypoplasia, Type 2E
 

Genes that can be tested at the clinic

  • VPS53
 

Chromosomes that occur

  • 17p13.3
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More information

Tay-Sachs Disease

 

Disease name

  • Tay-Sachs Disease
 

Genes that can be tested at the clinic

  • HEXA
 

Chromosomes that occur

  • 15q23
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More information

Usher Syndrome, Type 1F

 

Disease name

  • Usher Syndrome, Type 1F
 

Genes that can be tested at the clinic

  • PCDH15
 

Chromosomes that occur

  • 10q21.1
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More information

Usher Syndrome, Type 3

 

Disease name

  • Usher Syndrome, Type 3
 

Genes that can be tested at the clinic

  • CLRN1
 

Chromosomes that occur

  • 3q25.1
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More information

Wolman Disease

 

Disease name

  • Wolman Disease
 

Genes that can be tested at the clinic

  • LIPA
 

Chromosomes that occur

  • 10q23.31
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More information

3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome],

 

Disease name

  • 3-Methylglutaconic Aciduria, Type 3 [Costeff Syndrome],
 

Genes that can be tested at the clinic

  • OPA3
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More information

Abetalipoproteinemia

 

Disease name

  • Abetalipoproteinemia
 

Genes that can be tested at the clinic

  • MTTP
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More information

Acute Infantile Liver Failure (TRMU-related)

 

Disease name

  • Acute Infantile Liver Failure (TRMU-related)
 

Genes that can be tested at the clinic

  • TEMU
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More information

Argininosuccinate Lyase Deficiency, ASL

 

Disease name

  • Argininosuccinate Lyase Deficiency, ASL
 

Genes that can be tested at the clinic

  • ASL
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More information

Ataxia-Telangiectasia, ATM

 

Disease name

  • Ataxia-Telangiectasia, ATM
 

Genes that can be tested at the clinic

  • ATM
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More information

Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay, SACS

 

Disease name

  • Autosomal Recessive Spastic Ataxia of Charlevoix- Saguenay, SACS
 

Genes that can be tested at the clinic

  • SACS
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picture
 

Bare Lymphocyte Syndrome (CIITA-related), CIITA

 

Disease name

  • Bare Lymphocyte Syndrome (CIITA-related), CIITA
 

Genes that can be tested at the clinic

  • CIITA
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More information

Combined Oxidative Phosphorylation Deficiency 1, GFM1

 

Disease name

  • Combined Oxidative Phosphorylation Deficiency 1, GFM1
 

Genes that can be tested at the clinic

  • GFM1
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More information

Congenital Finnish Nephrosis, NPHS1

 

Disease name

  • Congenital Finnish Nephrosis, NPHS1
 

Genes that can be tested at the clinic

  • NPHS1
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More information

Congenital Myasthenic Syndrome (RAPSN-related), RAPSN

 

Disease name

  • Congenital Myasthenic Syndrome (RAPSN-related), RAPSN
 

Genes that can be tested at the clinic

  • RAPSN
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More information

Corneal Dystrophy and Perceptive Deafness, SLC4A11

 

Disease name

  • Corneal Dystrophy and Perceptive Deafness, SLC4A11
 

Genes that can be tested at the clinic

  • SLC4A11
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More information

Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] X-Linked, SLC6A8

 

Disease name

  • Creatine Transporter Defect [Cerebral Creatine Deficiency Syndrome 1] X-Linked, SLC6A8
 

Genes that can be tested at the clinic

  • SLC6A8
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More information

Cystinosis, CTNS

 

Disease name

  • Cystinosis, CTNS
 

Genes that can be tested at the clinic

  • CTNS
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More information

Duchenne Muscular Dystrophy, X-linked, DMD l

 

Disease name

  • Duchenne Muscular Dystrophy, X-linked, DMD l
 

Genes that can be tested at the clinic

  • DMD
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More information

Emery-Dreifuss Muscular Dystrophy 1, X-Linked, EMD

 

Disease name

  • Emery-Dreifuss Muscular Dystrophy 1, X-Linked, EMD
 

Genes that can be tested at the clinic

  • EMD
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More information

Fabry Disease, X-Linked, GLA

 

Disease name

  • Fabry Disease, X-Linked, GLA
 

Genes that can be tested at the clinic

  • GLA
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More information

Familial Mediterranean Fever, MEFV

 

Disease name

  • Familial Mediterranean Fever, MEFV
 

Genes that can be tested at the clinic

  • MEFV
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More information

Galactosemia, GALT u

 

Disease name

  • Galactosemia, GALT u
 

Genes that can be tested at the clinic

  • GALT
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More information

Hemochromatosis, Type 3 (TFR2-related), TFR2

 

Disease name

  • Hemochromatosis, Type 3 (TFR2-related), TFR2
 

Genes that can be tested at the clinic

  • TFR2
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More information

Hermansky-Pudlak Syndrome (HPS3-related), HPS3

 

Disease name

  • Hermansky-Pudlak Syndrome (HPS3-related), HPS3
 

Genes that can be tested at the clinic

  • HPS3
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More information

Hypophosphatasia (ALPL-related), ALPL

 

Disease name

  • Hypophosphatasia (ALPL-related), ALPL
 

Genes that can be tested at the clinic

  • ALPL
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More information

3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH

 

Disease name

  • “3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH
 

Genes that can be tested at the clinic

  • PHGDH
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picture
 

Achondrogenesis, Type 1B, SLC26A2

 

Disease name

  • Achondrogenesis, Type 1B, SLC26A2
 

Genes that can be tested at the clinic

  • SLC26A2
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picture
 

Autoimmune Polyglandular Syndrome, Type 1, AIRE

 

Disease name

  • Autoimmune Polyglandular Syndrome, Type 1, AIRE
 

Genes that can be tested at the clinic

  • AIRE
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More information

Bartter Syndrome (BSND-related), BSND

 

Disease name

  • Bartter Syndrome (BSND-related), BSND
 

Genes that can be tested at the clinic

  • BSND
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picture
 

Cartilage-Hair Hypoplasia, RMRP

 

Disease name

  • Cartilage-Hair Hypoplasia, RMRP
 

Genes that can be tested at the clinic

  • RMRP
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More information

Citrullinemia, Type 1, ASS1

 

Disease name

  • Citrullinemia, Type 1, ASS1
 

Genes that can be tested at the clinic

  • ASS1
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picture
 

Congenital Disorder of Glycosylation, Type 1B, MPI

 

Disease name

  • Congenital Disorder of Glycosylation, Type 1B, MPI
 

Genes that can be tested at the clinic

  • MPI
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More information

Congenital Insensitivity to Pain with Anhidrosis, NTRK1

 

Disease name

  • Congenital Insensitivity to Pain with Anhidrosis, NTRK1
 

Genes that can be tested at the clinic

  • NTRK1
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More information

Corticosterone Methyloxidase Deficiency, CYP11B2

 

Disease name

  • Corticosterone Methyloxidase Deficiency, CYP11B2
 

Genes that can be tested at the clinic

  • CYP11B2
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More information

D-Bifunctional Protein Deficiency, HSD17B4

 

Disease name

  • D-Bifunctional Protein Deficiency, HSD17B4
 

Genes that can be tested at the clinic

  • HSD17B4
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More information

Dystrophic Epidermolysis Bullosa (COL7A1-related), COL7A1

 

Disease name

  • Dystrophic Epidermolysis Bullosa (COL7A1-related), COL7A1
 

Genes that can be tested at the clinic

  • COL7A1
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More information

Enhanced S-Cone Syndrome, NR2E3

 

Disease name

  • Enhanced S-Cone Syndrome, NR2E3
 

Genes that can be tested at the clinic

  • NR2E3
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More information

Factor IX Deficiency, X-Linked, F9

 

Disease name

  • Factor IX Deficiency, X-Linked, F9
 

Genes that can be tested at the clinic

  • F9
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picture
 

Familial Nephrogenic Diabetes Insipidus (AQP2- related), AQP2

 

Disease name

  • Familial Nephrogenic Diabetes Insipidus (AQP2- related), AQP2
 

Genes that can be tested at the clinic

  • AQP2
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More information

Glycogen Storage Disease, Type 4, GBE1

 

Disease name

  • Glycogen Storage Disease, Type 4, GBE1
 

Genes that can be tested at the clinic

  • GBE1
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More information

6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, PTS

 

Disease name

  • 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency, PTS
 

Genes that can be tested at the clinic

  • PTS
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More information

Achromatopsia (CNGB3-related), CNGB3

 

Disease name

  • Achromatopsia (CNGB3-related), CNGB3
 

Genes that can be tested at the clinic

  • CNGB3
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picture
 

Adrenoleukodystrophy, X-Linked, ABCD1

 

Disease name

  • Adrenoleukodystrophy, X-Linked, ABCD1
 

Genes that can be tested at the clinic

  • ABCD1
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More information

Alport Syndrome (COL4A3-related), COL4A3

 

Disease name

  • Alport Syndrome (COL4A3-related), COL4A3
 

Genes that can be tested at the clinic

  • COL4A3
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More information

Ataxia with Vitamin E Deficiency, TTPA

 

Disease name

  • Ataxia with Vitamin E Deficiency, TTPA
 

Genes that can be tested at the clinic

  • TTPA
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More information

Batten Disease (CLN3-related), CLN3

 

Disease name

  • Batten Disease (CLN3-related), CLN3
 

Genes that can be tested at the clinic

  • CLN3
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picture
 

Bloom Syndrome, BLM u

 

Disease name

  • Bloom Syndrome, BLM u
 

Genes that can be tested at the clinic

  • BLM
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More information

Carnitine Palmitoyltransferase II Deficiency, CPT2

 

Disease name

  • Carnitine Palmitoyltransferase II Deficiency, CPT2
 

Genes that can be tested at the clinic

  • CPT2
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More information

Cerebrotendinous Xanthomatosis, CYP27A1

 

Disease name

  • Cerebrotendinous Xanthomatosis, CYP27A1
 

Genes that can be tested at the clinic

  • CYP27A1
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More information

Chronic Granulomatous Disease, X-Linked, CYBB

 

Disease name

  • Chronic Granulomatous Disease, X-Linked, CYBB
 

Genes that can be tested at the clinic

  • CYBB
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More information

Combined Malonic and Methylmalonic Aciduria,

 

Disease name

  • Combined Malonic and Methylmalonic Aciduria,
 

Genes that can be tested at the clinic

  • ACSF3
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picture
 
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More information

Combined Pituitary Hormone Deficiency 2, PROP1

 

Disease name

  • Combined Pituitary Hormone Deficiency 2, PROP1
 

Genes that can be tested at the clinic

  • PROP1
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More information

Congenital Disorder of Glycosylation Type 1C, ALG6

 

Disease name

  • Congenital Disorder of Glycosylation Type 1C, ALG6
 

Genes that can be tested at the clinic

  • ALG6
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More information

Congenital Myasthenic Syndrome (CHRNE-related), CHRNE

 

Disease name

  • Congenital Myasthenic Syndrome (CHRNE-related), CHRNE
 

Genes that can be tested at the clinic

  • CHRNE
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More information

Congenital Neutropenia (VPS45-related), VPS45

 

Disease name

  • Congenital Neutropenia (VPS45-related), VPS45
 

Genes that can be tested at the clinic

  • VPS45
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More information

CRB1-related Retinal Dystrophies, CRB1

 

Disease name

  • CRB1-related Retinal Dystrophies, CRB1
 

Genes that can be tested at the clinic

  • CRB1
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More information

Deafness, Autosomal Recessive 77, LOXHD1

 

Disease name

  • Deafness, Autosomal Recessive 77, LOXHD1
 

Genes that can be tested at the clinic

  • LOXHD1
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More information

Ehlers-Danlos Syndrome, Type VIIC, ADAMTS

 

Disease name

  • Ehlers-Danlos Syndrome, Type VIIC, ADAMTS
 

Genes that can be tested at the clinic

  • ADAMTS
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More information

Ethylmalonic Encephalopathy, ETHE1

 

Disease name

  • Ethylmalonic Encephalopathy, ETHE1
 

Genes that can be tested at the clinic

  • ETHE1
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More information

Factor V Leiden Thrombophilia, F5

 

Disease name

  • Factor V Leiden Thrombophilia, F5
 

Genes that can be tested at the clinic

  • F5
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picture
 

Familial Hypercholesterolemia (LDLR-related), LDLR

 

Disease name

  • Familial Hypercholesterolemia (LDLR-related), LDLR
 

Genes that can be tested at the clinic

  • LDLR
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picture
 

Galactokinase Deficiency [Galactosemia, Type II], GALK1

 

Disease name

  • Galactokinase Deficiency [Galactosemia, Type II], GALK1
 

Genes that can be tested at the clinic

  • GALK1
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picture
 

Glutaric Acidemia, Type 1, GCDH

 

Disease name

  • Glutaric Acidemia, Type 1, GCDH
 

Genes that can be tested at the clinic

  • GCDH
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picture
 

Glycine Encephalopathy (AMT-related), AMT

 

Disease name

  • Glycine Encephalopathy (AMT-related), AMT
 

Genes that can be tested at the clinic

  • AMT
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picture
 

Glycogen Storage Disease, Type 2 [Pompe Disease], GAA

 

Disease name

  • Glycogen Storage Disease, Type 2 [Pompe Disease], GAA
 

Genes that can be tested at the clinic

  • GAA
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picture
 

Glycogen Storage Disease, Type 5 [McArdle Disease], PYGM

 

Disease name

  • Glycogen Storage Disease, Type 5 [McArdle Disease], PYGM
 

Genes that can be tested at the clinic

  • PYGM
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picture
 

Hemochromatosis, Type 2A, HFE2

 

Disease name

  • Hemochromatosis, Type 2A, HFE2
 

Genes that can be tested at the clinic

  • HFE2
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picture
 

Hermansky-Pudlak Syndrome (HPS1-related), HPS1

 

Disease name

  • Hermansky-Pudlak Syndrome (HPS1-related), HPS1
 

Genes that can be tested at the clinic

  • HPS1
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picture
 

Homocystinuria (CBS-related), CBS

 

Disease name

  • Homocystinuria (CBS-related), CBS
 

Genes that can be tested at the clinic

  • CBS
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picture
 

Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA

 

Disease name

  • Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA
 

Genes that can be tested at the clinic

  • EDA
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picture
 

Krabbe Disease, GALC

 

Disease name

  • Krabbe Disease, GALC
 

Genes that can be tested at the clinic

  • GALC
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picture
 

Leber Congenital Amaurosis, Type CEP290, CEP290

 

Disease name

  • Leber Congenital Amaurosis, Type CEP290, CEP290
 

Genes that can be tested at the clinic

  • CEP290
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picture
 

Limb-Girdle Muscular Dystrophy, Type 2C, SGCG

 

Disease name

  • Limb-Girdle Muscular Dystrophy, Type 2C, SGCG
 

Genes that can be tested at the clinic

  • SGCG
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picture
 

Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3], DLD

 

Disease name

  • Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3], DLD
 

Genes that can be tested at the clinic

  • DLD
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picture
 

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, HADHA

 

Disease name

  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, HADHA
 

Genes that can be tested at the clinic

  • HADHA
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picture
 

Meckel-Gruber Syndrome, Type 1, MKS1

 

Disease name

  • Meckel-Gruber Syndrome, Type 1, MKS1
 

Genes that can be tested at the clinic

  • MKS1
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picture
 

Metachromatic Leukodystrophy (ARSA-related), ARSA

 

Disease name

  • Metachromatic Leukodystrophy (ARSA-related), ARSA
 

Genes that can be tested at the clinic

  • ARSA
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picture
 

Methylmalonic Aciduria (MMAB-related), MMAB

 

Disease name

  • Methylmalonic Aciduria (MMAB-related), MMAB
 

Genes that can be tested at the clinic

  • MMAB
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picture
 

Methylmalonic Aciduria, Type mut(0), MMUT

 

Disease name

  • Methylmalonic Aciduria, Type mut(0), MMUT
 

Genes that can be tested at the clinic

  • MMUT
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picture
 

Mitochondrial Complex 1 Deficiency (NDUFAF5- related), NDUFAF5

 

Disease name

  • Mitochondrial Complex 1 Deficiency (NDUFAF5- related), NDUFAF5
 

Genes that can be tested at the clinic

  • NDUFAF5
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picture
 

Mucolipidosis II/III, GNPTAB

 

Disease name

  • Mucolipidosis II/III, GNPTAB
 

Genes that can be tested at the clinic

  • GNPTAB
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picture
 

Myoneurogastrointestinal Encephalopathy (MNGIE), TYMP

 

Disease name

  • Myoneurogastrointestinal Encephalopathy (MNGIE), TYMP
 

Genes that can be tested at the clinic

  • TYMP
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picture
 

Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome], MPV17

 

Disease name

  • Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome], MPV17
 

Genes that can be tested at the clinic

  • MPV17
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picture
 

Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5

 

Disease name

  • Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5
 

Genes that can be tested at the clinic

  • CLN5
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picture
 

Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1

 

Disease name

  • Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1
 

Genes that can be tested at the clinic

  • PPT1
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Niemann-Pick Disease, Type C2, NPC2

 

Disease name

  • Niemann-Pick Disease, Type C2, NPC2
 

Genes that can be tested at the clinic

  • NPC2
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Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz- Passarge Syndrome, WNT10A

 

Disease name

  • Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz- Passarge Syndrome, WNT10A
 

Genes that can be tested at the clinic

  • WNT10A
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Ornithine Transcarbamylase Deficiency, OTC

 

Disease name

  • Ornithine Transcarbamylase Deficiency, OTC
 

Genes that can be tested at the clinic

  • OTC
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Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related), PEX1

 

Disease name

  • Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related), PEX1
 

Genes that can be tested at the clinic

  • PEX1
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Pituitary Hormone Deficiency, Combined 3, LHX3

 

Disease name

  • Pituitary Hormone Deficiency, Combined 3, LHX3
 

Genes that can be tested at the clinic

  • LHX3
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Primary Ciliary Dyskinesia, DNAI1-related, DNAI1

 

Disease name

  • Primary Ciliary Dyskinesia, DNAI1-related, DNAI1
 

Genes that can be tested at the clinic

  • DNAI1
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More information

Primary Hyperoxaluria, Type 2, GRHPR

 

Disease name

  • Primary Hyperoxaluria, Type 2, GRHPR
 

Genes that can be tested at the clinic

  • GRHPR
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Pyruvate Dehydrogenase Deficiency (PDHB-related), PDHB

 

Disease name

  • Pyruvate Dehydrogenase Deficiency (PDHB-related), PDHB
 

Genes that can be tested at the clinic

  • PDHB
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Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy], RLBP

 

Disease name

  • Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy], RLBP
 

Genes that can be tested at the clinic

  • RLBP
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Retinitis Pigmentosa 26, CERKL

 

Disease name

  • Retinitis Pigmentosa 26, CERKL
 

Genes that can be tested at the clinic

  • CERKL
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More information

Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7

 

Disease name

  • Rhizomelic Chondrodysplasia Punctata, Type 1, PEX7
 

Genes that can be tested at the clinic

  • PEX7
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Salla Disease, SLC17A5

 

Disease name

  • Salla Disease, SLC17A5
 

Genes that can be tested at the clinic

  • SLC17A5
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Segawa Syndrome, (TH-related), TH

 

Disease name

  • Segawa Syndrome, (TH-related), TH
 

Genes that can be tested at the clinic

  • TH
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Sickle-Cell Disease, HBB l

 

Disease name

  • Sickle-Cell Disease, HBB l
 

Genes that can be tested at the clinic

  • HBB l
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Tay-Sachs Disease, HEXA u

 

Disease name

  • Tay-Sachs Disease, HEXA u
 

Genes that can be tested at the clinic

  • HEXA 
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Wilson Disease, ATP7B

 

Disease name

  • Wilson Disease, ATP7B
 

Genes that can be tested at the clinic

  • ATP7B
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Junctional Epidermolysis Bullosa, Herlitz type, LAMC2

 

Disease name

  • Junctional Epidermolysis Bullosa, Herlitz type, LAMC2
 

Genes that can be tested at the clinic

  • LAMC2
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Lamellar Ichthyosis, Type 1, TGM1

 

Disease name

  • Lamellar Ichthyosis, Type 1, TGM1
 

Genes that can be tested at the clinic

  • TGM1
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Leigh Syndrome, French-Canadian Type, LRPPRC

 

Disease name

  • Leigh Syndrome, French-Canadian Type, LRPPRC
 

Genes that can be tested at the clinic

  • LRPPRC
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Limb-Girdle Muscular Dystrophy, Type 2A, CAPN3

 

Disease name

  • Limb-Girdle Muscular Dystrophy, Type 2A, CAPN3
 

Genes that can be tested at the clinic

  • CAPN3
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Limb-Girdle Muscular Dystrophy, Type 2D, SGCA

 

Disease name

  • Limb-Girdle Muscular Dystrophy, Type 2D, SGCA
 

Genes that can be tested at the clinic

  • SGCA
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Lipoid Adrenal Hyperplasia, STAR

 

Disease name

  • Lipoid Adrenal Hyperplasia, STAR
 

Genes that can be tested at the clinic

  • STAR
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Medium Chain Acyl-CoA Dehydrogenase Deficiency, ACADM u

 

Disease name

  • Medium Chain Acyl-CoA Dehydrogenase Deficiency, ACADM u
 

Genes that can be tested at the clinic

  • ACADM u
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Metachromatic Leukodystrophy (PSAP-related) PSAP

 

Disease name

  • Metachromatic Leukodystrophy (PSAP-related) PSAP
 

Genes that can be tested at the clinic

  • PSAP
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Methylmalonic Aciduria and Homocystinuria, Type cblC, MMACHC

 

Disease name

  • Methylmalonic Aciduria and Homocystinuria, Type cblC, MMACHC
 

Genes that can be tested at the clinic

  • MMACHC
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Microphthalmia/Anophthalmia (VSX2-related), VSX2

 

Disease name

  • Microphthalmia/Anophthalmia (VSX2-related), VSX2
 

Genes that can be tested at the clinic

  • VSX2
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More information

Mitochondrial Complex 1 Deficiency (NDUFS6-related), NDUFS6

 

Disease name

  • Mitochondrial Complex 1 Deficiency (NDUFS6-related), NDUFS6
 

Genes that can be tested at the clinic

  • NDUFS6
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Mucolipidosis III Gamma, GNPTG

 

Disease name

  • Mucolipidosis III Gamma, GNPTG
 

Genes that can be tested at the clinic

  • GNPTG
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Mucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU

 

Disease name

  • Mucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU
 

Genes that can be tested at the clinic

  • NAGLU
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Mucopolysaccharidosis, Type IX, HYAL1

 

Disease name

  • Mucopolysaccharidosis, Type IX, HYAL1
 

Genes that can be tested at the clinic

  • HYAL1
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Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6

 

Disease name

  • Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6
 

Genes that can be tested at the clinic

  • CLN6
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Niemann-Pick Disease, Types A/B, SMPD1 u

 

Disease name

  • Niemann-Pick Disease, Types A/B, SMPD1 u
 

Genes that can be tested at the clinic

  • SMPD1
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Pontocerebellar Hypoplasia, RARS2-related, RARS2

 

Disease name

  • Pontocerebellar Hypoplasia, RARS2-related, RARS2
 

Genes that can be tested at the clinic

  • RARS2
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Primary Ciliary Dyskinesia, DNAI2-related, DNAI2

 

Disease name

  • Primary Ciliary Dyskinesia, DNAI2-related, DNAI2
 

Genes that can be tested at the clinic

  • DNAI2
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Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1

 

Disease name

  • Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1
 

Genes that can be tested at the clinic

  • PDHA1
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Retinitis Pigmentosa 28, FAM161A

 

Disease name

  • Retinitis Pigmentosa 28, FAM161A
 

Genes that can be tested at the clinic

  • FAM161A
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Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS

 

Disease name

  • Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS
 

Genes that can be tested at the clinic

  • AGPS
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Sandhoff Disease, HEXB

 

Disease name

  • Sandhoff Disease, HEXB
 

Genes that can be tested at the clinic

  • HEXB
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Tyrosinemia, Type 1, FAH

 

Disease name

  • Tyrosinemia, Type 1, FAH
 

Genes that can be tested at the clinic

  • FAH
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Usher Syndrome, Type 2A, USH2A

 

Disease name

  • Usher Syndrome, Type 2A, USH2A
 

Genes that can be tested at the clinic

  • USH2A
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Juvenile Retinoschisis, X-Linked, RS1

 

Disease name

  • Juvenile Retinoschisis, X-Linked, RS1
 

Genes that can be tested at the clinic

  • RS1
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More information

Limb-Girdle Muscular Dystrophy, Type 2B, DYSF

 

Disease name

  • Limb-Girdle Muscular Dystrophy, Type 2B, DYSF
 

Genes that can be tested at the clinic

  • DYSF
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Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1

 

Disease name

  • Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1
 

Genes that can be tested at the clinic

  • MLC1
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Mitochondrial Complex 1 Deficiency (ACAD9-related), ACAD9

 

Disease name

  • Mitochondrial Complex 1 Deficiency (ACAD9-related), ACAD9
 

Genes that can be tested at the clinic

  • ACAD9
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More information

Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1), PUS1

 

Disease name

  • Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1), PUS1
 

Genes that can be tested at the clinic

  • PUS1
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Mucolipidosis, Type IV, MCOLN1 u

 

Disease name

  • Mucolipidosis, Type IV, MCOLN1 u
 

Genes that can be tested at the clinic

  • MCOLN1 u
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N-acetylglutamate Synthase Deficiency, NAGS

 

Disease name

  • N-acetylglutamate Synthase Deficiency, NAGS
 

Genes that can be tested at the clinic

  • NAGS
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Niemann-Pick Disease, Type C1/D, NPC1

 

Disease name

  • Niemann-Pick Disease, Type C1/D, NPC1
 

Genes that can be tested at the clinic

  • NPC1
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Non-Syndromic Hearing Loss (GJB2-related, GJB6-related), GJB2, GJB6

 

Disease name

  • Non-Syndromic Hearing Loss (GJB2-related, GJB6-related), GJB2, GJB6
 

Genes that can be tested at the clinic

  • GJB2、GJB6
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More information

Ornithine Aminotransferase Deficiency, OAT

 

Disease name

  • Ornithine Aminotransferase Deficiency, OAT
 

Genes that can be tested at the clinic

  • OAT
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Phenylketonurea, PAH u

 

Disease name

  • Phenylketonurea, PAH u
 

Genes that can be tested at the clinic

  • PAH u
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Primary Hyperoxaluria, Type 1, AGXT

 

Disease name

  • Primary Hyperoxaluria, Type 1, AGXT
 

Genes that can be tested at the clinic

  • AGXT
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Renal Tubular Acidosis and Deafness (ATP6V1B1- related), ATP6V1B

 

Disease name

  • Renal Tubular Acidosis and Deafness (ATP6V1B1- related), ATP6V1B
 

Genes that can be tested at the clinic

  • ATP6V1B
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Retinitis Pigmentosa, X-linked, RPGR

 

Disease name

  • Retinitis Pigmentosa, X-linked, RPGR
 

Genes that can be tested at the clinic

  • RPGR
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Roberts Syndrome, ESCO2

 

Disease name

  • Roberts Syndrome, ESCO2
 

Genes that can be tested at the clinic

  • ESCO2
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Schimke Immunoosseous Dysplasia, SMARCAL1

 

Disease name

  • Schimke Immunoosseous Dysplasia, SMARCAL1
 

Genes that can be tested at the clinic

  • SMARCAL1
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Smith-Lemli-Opitz Syndrome, DHCR7 u

 

Disease name

  • Smith-Lemli-Opitz Syndrome, DHCR7 u
 

Genes that can be tested at the clinic

  • DHCR7 u
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Stuve-Wiedemann Syndrome, LIFR

 

Disease name

  • Stuve-Wiedemann Syndrome, LIFR
 

Genes that can be tested at the clinic

  • HSPG2
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Usher Syndrome, Type 1C, USH1C

 

Disease name

  • Usher Syndrome, Type 1C, USH1C
 

Genes that can be tested at the clinic

  • USH1C
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Zellweger Spectrum Disorders, (PEX6-related), PEX6

 

Disease name

  • Zellweger Spectrum Disorders, (PEX6-related), PEX6
 

Genes that can be tested at the clinic

  • PEX6
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Zellweger Spectrum Disorders (PEX10-related), PEX10

 

Disease name

  • Zellweger Spectrum Disorders (PEX10-related), PEX10
 

Genes that can be tested at the clinic

  • PEX10
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What are recessive genetic disorders at Hiro Clinic?

Hiro Clinic can detect 228 serious recessive genetic disease gene associations before birth.

This involves extracting and analysing genes from the buccal mucosa of the mother and father and combining them to detect serious genetic disorders in the foetus.

Serious genetic disorders are very rare, but even for a recessive genetic disorder that affects 1 in 40 000 people, the number of carriers of the disease (individuals with an abnormality in one of the two chromosomes but without the disease) is 1 in 100.

The HIRO Clinic considers the test to be useful in identifying carrier genes and suspecting a link between 228 different recessive genetic disorders based on their combination.

The unique feature of this test is that it detects all the combinations of genes that have been previously considered to be genetic abnormalities and determines whether the genetic changes are indeed pathogenic.

Genes differ from individual to individual. This is often the case for important genes, and their diversity makes each person different. However, they can also be pathogenic in their variation.

Gene combinations are shared in databases around the world, which are searched to see if any of the 228 gene variants are pathogenic.

When the mother and father are pathogenic at the same site, there is a high frequency risk of the child developing the disease. However, it is not enough just to look at the genetic change. It is necessary to determine (annotate) whether the genetic change is really abnormal. This is a joint effort between the Tokyo Health Laboratory and Medicover.

Testing for recessive genetic disease genes

Methods of inspection/limitations of inspection

228 carrier screening tests developed by the Medicover Genetics Ltd laboratory.
Genomic deoxyribonucleic acid (gDNA) is extracted using standardised methods and mechanically fragmented prior to DNA library preparation.
DNA enrichment of the genomic region of interest is performed using solution-based hybridisation methods and sequenced next-generation sequencing (NGS).
The read-out sequence data is referenced to a reference genome and mutations are identified using a proprietary bioinformatics pipeline.
Recessive inheritance can be identified for single nucleotide variants, small insertions and deletions (≤30 bases) and copy number variations (CNVs).
Variants are classified according to the American College of Medical Genomics and Genomics 3-5 criteria.
Variant classification and interpretation is performed using the Varsome Clinical platform and is based on information available at the time of testing.
Only pathogenic and suspected pathogenic mutations are reported. Variants of detected but unknown significance, benign or potentially benign mutations are not reported.
Genetic counselling is recommended for clinical interpretation and results.
A: If autosomal results are:
A-1: “No clinically significant variants detected”
While not a complete guarantee that the testee is not a carrier of a genetic disease, they indicate the absence of a genetic variant and are unlikely to be a carrier.
A-2: ‘Clinically significant variant detected’
Indicates that a genetic alteration has been identified and that the testee is a carrier of the disease.
The person can then be a carrier of two or more diseases.
Carriers usually do not have symptoms of the disease.
However, two genes on two chromosomes may both be abnormal, in which case the possibility that the testee is currently affected or will be in the future cannot be ruled out.
B: For X-linked inherited diseases:
B-1: ‘No clinically significant variant detected’
Indicates the absence of a heritable variant, and can be said to indicate that the testee is not affected if the testee is male, or is unlikely to be a carrier if the testee is female, but it cannot be ruled out completely.
B-2: ‘Clinically significant variant detected’:
Indicates that a genetic alteration has been identified. In the case of female test subjects, it is possible that they are carriers.
If the testee is male, it indicates that he is currently affected or may develop the disease in the future.
However, the disease groups in this panel vary in severity and may not present clinically.
The aim of the test is to detect all variants associated with the detected gene by targeting all coding exons, MANE and/or standard transcripts and 10 bp of adjacent intronic sequences.
Mutants outside the target region are not intended to be detected by this assay.
Unless otherwise stated, sequence changes (SNVs and INDELS) in promoters and other non-coding regions are not detected by this assay.
Specific sequence changes (SNVs and INDELS) in non-coding regions considered clinically important for the detected gene are included in the analysis.
If two variants are identified in a gene, it is not possible to distinguish whether these are on one chromosome (cis) or another (trans).
Genetic changes such as inversion, rearrangements, ploidy and epigenetic effects are not covered by this test.
Certain sequence variations in target regions, including repetitive sequences (SNVs and INDELS), highly homologous sequences such as segmental duplications and pseudogenes, and regions of high/low GC content may not be detected.
Copy Number Variations (CNVs) are calculated using high-quality sequencing reads that are free of duplicates and uniquely aligned.
CNVs are detected for a subset of target regions using GC content normalisation and depth of sequencing coverage approach.
CNV anomalies are detected if the detected coverage deviates significantly from the coverage estimated from the reference site.
CNVs can be detected down to a resolution of a few exon levels.
If the CNV is positive, it is confirmed using the orthogonal method.
CNVs cannot be detected in genomic regions that contain little or no mapping, repetitive sequences, pseudogenes or high/low GC content.
Detecting CNVs using NGS is less sensitive/specific than orthogonal quantification methods, so the absence of a reported CNV does not guarantee that it is not present.
The fact that no disease-causing variants are present in a target gene reduces the likelihood of disease, but does not completely exclude the possibility of disease-related syndromes.

Additional information and disclosures

Validation testing is carried out by Medicaver Genetics Ltd.
The test does not identify all mutations associated with the disease tested.
While the test is highly accurate, the possibility of false positives or false negatives still exists and can be caused by technical or biological limitations.
These include rare genetic variants, mosaicism, blood transfusions, bone marrow transplants or other rare molecular events.
Some undetected genetic alterations may be affected and are not tested by carrier screening tests.
Although genetic testing is an important part of the diagnostic process, genetic testing does not always give definitive answers. In some cases, a genetic mutation may be present but not identified by testing.
This is due to limitations in current medical knowledge or testing techniques.
Concurrent use of other clinical data and clinical findings is recommended.
Resulting results should always be considered in relation to other clinical findings.
The clinician who referred the patient for testing is responsible for pre- and post-test counselling, including advice on the need for additional genetic testing.
Other diagnostic tests may be required.