About 228 recessive gene tests
This test is recommended for couples who are planning to conceive or for couples who have become pregnant. The test is offered to determine whether the recessive inheritance is likely to cause moderate to severe genetic disorders. The test will tell you which genetic variants a couple or couples may carry and which may be inherited by their children. This means that the test taker can find out whether their child is at risk of having the genetic condition in the future!
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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.
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
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
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
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
More information
Abetalipoproteinemia
Disease name
- Abetalipoproteinemia
Genes that can be tested at the clinic
- MTTP
Chromosomes that occur
- 4q23
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
More information
Chorea-acanthocytosis
Disease name
- Chorea-acanthocytosis
Genes that can be tested at the clinic
- VPS13A
Chromosomes that occur
- 9q21.2
More information
Choroideremia, X-Linked
Disease name
- Choroideremia, X-Linked
Genes that can be tested at the clinic
- CHM
Chromosomes that occur
- Xq21.2
More information
Citrin Deficiency
Disease name
- Citrin Deficiency
Genes that can be tested at the clinic
- SLC25A13
Chromosomes that occur
- 7q21.3
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
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
More information
Hereditary Fructose Intolerance
Disease name
- Hereditary Fructose Intolerance
Genes that can be tested at the clinic
- ALDOB
Chromosomes that occur
- 9q31.1
More information
Homocystinuria, Type cblE
Disease name
- Homocystinuria, Type cblE
Genes that can be tested at the clinic
- MTRR
Chromosomes that occur
- 5p15.31
More information
Hydrolethalus Syndrome
Disease name
- Hydrolethalus Syndrome
Genes that can be tested at the clinic
- HYLS1
Chromosomes that occur
- 11q24.2
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
More information
Isovaleric Acidemia
Disease name
- Isovaleric Acidemia
Genes that can be tested at the clinic
- IVD
Chromosomes that occur
- 15q15.1
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
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
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
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
More information
Multiple Sulfatase Deficiency
Disease name
- Multiple Sulfatase Deficiency
Genes that can be tested at the clinic
- SUMF1
Chromosomes that occur
- 3p26
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
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
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
More information
Pycnody sostosis
Disease name
- Pycnody sostosis
Genes that can be tested at the clinic
- CTSK
Chromosomes that occur
- 1q21.3
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
More information
Aicardi-Goutières Syndrome
Disease name
- Aicardi-Goutières Syndrome
Genes that can be tested at the clinic
- SAMHD1
Chromosomes that occur
- 20q11.23
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
More information
Alstrom Syndrome
Disease name
- Alstrom Syndrome
Genes that can be tested at the clinic
- ALMS1
Chromosomes that occur
- 2p13.1
More information
Andermann Syndrome
Disease name
- Andermann Syndrome
Genes that can be tested at the clinic
- SLC12A6
Chromosomes that occur
- 15q14
More information
Aromatase Deficiency
Disease name
- Aromatase Deficiency
Genes that can be tested at the clinic
- CYP19A1
Chromosomes that occur
- 15q21.2
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
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
More information
Cystic Fibrosis
Disease name
- Cystic Fibrosis
Genes that can be tested at the clinic
- CFTR
Chromosomes that occur
- 7q31.2
More information
Factor XI Deficiency
Disease name
- Factor XI Deficiency
Genes that can be tested at the clinic
- F11
Chromosomes that occur
- 4q35.2
More information
Familial Dysautonomia
Disease name
- Familial Dysautonomia
Genes that can be tested at the clinic
- IKBKAP
Chromosomes that occur
- 9q31.3
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
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
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
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
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
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
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
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
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
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
More information
Nijmegen Breakage Syndrome
Disease name
- Nijmegen Breakage Syndrome
Genes that can be tested at the clinic
- NBN
Chromosomes that occur
- 8q21.3
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
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
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
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
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
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
More information
Asparagine Synthetase Deficiency
Disease name
- Asparagine Synthetase Deficiency
Genes that can be tested at the clinic
- ASNS
Chromosomes that occur
- 7q21.3
More information
Aspartylglycosaminuria
Disease name
- Aspartylglycosaminuria
Genes that can be tested at the clinic
- AGA
Chromosomes that occur
- 4q34.3
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
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
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
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
More information
Gaucher Disease
Disease name
- Gaucher Disease
Genes that can be tested at the clinic
- GBA
Chromosomes that occur
- 1q21
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
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
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
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
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
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
More information
Lipoprotein Lipase Deficiency
Disease name
- Lipoprotein Lipase Deficiency
Genes that can be tested at the clinic
- LPL
Chromosomes that occur
- 8p21.3
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
More information
Ornithine Aminotransferase Deficiency
Disease name
- Ornithine Aminotransferase Deficiency
Genes that can be tested at the clinic
- OAT
Chromosomes that occur
- 10q26.13
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
More information
Pendred Syndrome
Disease name
- Pendred Syndrome
Genes that can be tested at the clinic
- SLC26A4
Chromosomes that occur
- 7q22.3
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
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
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
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
More information
Sickle-Cell Disease
Disease name
- Sickle-Cell Disease
Genes that can be tested at the clinic
- HBB
Chromosomes that occur
- 11p15.4
More information
Sjögren-Larsson Syndrome
Disease name
- Sjögren-Larsson Syndrome
Genes that can be tested at the clinic
- ALDH3A2
Chromosomes that occur
- 17p11.2
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
More information
Stuve-Wiedemann Syndrome
Disease name
- Stuve-Wiedemann Syndrome
Genes that can be tested at the clinic
- LIFR
Chromosomes that occur
- 5p13.1
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
More information
Beta Thalassemia
Disease name
- Beta Thalassemia
Genes that can be tested at the clinic
- HBB
Chromosomes that occur
- 11p15.4
More information
Biotinidase Deficiency
Disease name
- Biotinidase Deficiency
Genes that can be tested at the clinic
- BTD
Chromosomes that occur
- 3p25.1
More information
Canavan Disease
Disease name
- Canavan Disease
Genes that can be tested at the clinic
- ASPA
Chromosomes that occur
- 17p13.2
More information
Carpenter Syndrome
Disease name
- Carpenter Syndrome
Genes that can be tested at the clinic
- RAB23
Chromosomes that occur
- 6p12.1-p11.2
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
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
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
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
More information
GRACILE Syndrome
Disease name
- GRACILE Syndrome
Genes that can be tested at the clinic
- BCS1L
Chromosomes that occur
- 2q35
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
More information
Lysinuric Protein Intolerance
Disease name
- Lysinuric Protein Intolerance
Genes that can be tested at the clinic
- SLC7A7
Chromosomes that occur
- 14q11.2
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
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
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
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
More information
Phenylketonurea
Disease name
- Phenylketonurea
Genes that can be tested at the clinic
- PAH
Chromosomes that occur
- 12q23.2
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
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
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
More information
Tay-Sachs Disease
Disease name
- Tay-Sachs Disease
Genes that can be tested at the clinic
- HEXA
Chromosomes that occur
- 15q23
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
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
More information
Wolman Disease
Disease name
- Wolman Disease
Genes that can be tested at the clinic
- LIPA
Chromosomes that occur
- 10q23.31
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
More information
Abetalipoproteinemia
Disease name
- Abetalipoproteinemia
Genes that can be tested at the clinic
- MTTP
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
More information
Argininosuccinate Lyase Deficiency, ASL
Disease name
- Argininosuccinate Lyase Deficiency, ASL
Genes that can be tested at the clinic
- ASL
More information
Ataxia-Telangiectasia, ATM
Disease name
- Ataxia-Telangiectasia, ATM
Genes that can be tested at the clinic
- ATM
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
Bare Lymphocyte Syndrome (CIITA-related), CIITA
Disease name
- Bare Lymphocyte Syndrome (CIITA-related), CIITA
Genes that can be tested at the clinic
- CIITA
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
More information
Congenital Finnish Nephrosis, NPHS1
Disease name
- Congenital Finnish Nephrosis, NPHS1
Genes that can be tested at the clinic
- NPHS1
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
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
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
More information
Cystinosis, CTNS
Disease name
- Cystinosis, CTNS
Genes that can be tested at the clinic
- CTNS
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
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
More information
Fabry Disease, X-Linked, GLA
Disease name
- Fabry Disease, X-Linked, GLA
Genes that can be tested at the clinic
- GLA
More information
Familial Mediterranean Fever, MEFV
Disease name
- Familial Mediterranean Fever, MEFV
Genes that can be tested at the clinic
- MEFV
More information
Galactosemia, GALT u
Disease name
- Galactosemia, GALT u
Genes that can be tested at the clinic
- GALT
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
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
More information
Hypophosphatasia (ALPL-related), ALPL
Disease name
- Hypophosphatasia (ALPL-related), ALPL
Genes that can be tested at the clinic
- ALPL
More information
3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH
Disease name
- “3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH
Genes that can be tested at the clinic
- PHGDH
Achondrogenesis, Type 1B, SLC26A2
Disease name
- Achondrogenesis, Type 1B, SLC26A2
Genes that can be tested at the clinic
- SLC26A2
Autoimmune Polyglandular Syndrome, Type 1, AIRE
Disease name
- Autoimmune Polyglandular Syndrome, Type 1, AIRE
Genes that can be tested at the clinic
- AIRE
More information
Bartter Syndrome (BSND-related), BSND
Disease name
- Bartter Syndrome (BSND-related), BSND
Genes that can be tested at the clinic
- BSND
Cartilage-Hair Hypoplasia, RMRP
Disease name
- Cartilage-Hair Hypoplasia, RMRP
Genes that can be tested at the clinic
- RMRP
More information
Citrullinemia, Type 1, ASS1
Disease name
- Citrullinemia, Type 1, ASS1
Genes that can be tested at the clinic
- ASS1
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
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
More information
Corticosterone Methyloxidase Deficiency, CYP11B2
Disease name
- Corticosterone Methyloxidase Deficiency, CYP11B2
Genes that can be tested at the clinic
- CYP11B2
More information
D-Bifunctional Protein Deficiency, HSD17B4
Disease name
- D-Bifunctional Protein Deficiency, HSD17B4
Genes that can be tested at the clinic
- HSD17B4
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
More information
Enhanced S-Cone Syndrome, NR2E3
Disease name
- Enhanced S-Cone Syndrome, NR2E3
Genes that can be tested at the clinic
- NR2E3
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
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
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
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
More information
Achromatopsia (CNGB3-related), CNGB3
Disease name
- Achromatopsia (CNGB3-related), CNGB3
Genes that can be tested at the clinic
- CNGB3
Adrenoleukodystrophy, X-Linked, ABCD1
Disease name
- Adrenoleukodystrophy, X-Linked, ABCD1
Genes that can be tested at the clinic
- ABCD1
More information
Alport Syndrome (COL4A3-related), COL4A3
Disease name
- Alport Syndrome (COL4A3-related), COL4A3
Genes that can be tested at the clinic
- COL4A3
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
More information
Batten Disease (CLN3-related), CLN3
Disease name
- Batten Disease (CLN3-related), CLN3
Genes that can be tested at the clinic
- CLN3
Bloom Syndrome, BLM u
Disease name
- Bloom Syndrome, BLM u
Genes that can be tested at the clinic
- BLM
More information
Carnitine Palmitoyltransferase II Deficiency, CPT2
Disease name
- Carnitine Palmitoyltransferase II Deficiency, CPT2
Genes that can be tested at the clinic
- CPT2
More information
Cerebrotendinous Xanthomatosis, CYP27A1
Disease name
- Cerebrotendinous Xanthomatosis, CYP27A1
Genes that can be tested at the clinic
- CYP27A1
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
More information
Combined Malonic and Methylmalonic Aciduria,
Disease name
- Combined Malonic and Methylmalonic Aciduria,
Genes that can be tested at the clinic
- ACSF3
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
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
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
More information
Congenital Neutropenia (VPS45-related), VPS45
Disease name
- Congenital Neutropenia (VPS45-related), VPS45
Genes that can be tested at the clinic
- VPS45
More information
CRB1-related Retinal Dystrophies, CRB1
Disease name
- CRB1-related Retinal Dystrophies, CRB1
Genes that can be tested at the clinic
- CRB1
More information
Deafness, Autosomal Recessive 77, LOXHD1
Disease name
- Deafness, Autosomal Recessive 77, LOXHD1
Genes that can be tested at the clinic
- LOXHD1
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
More information
Ethylmalonic Encephalopathy, ETHE1
Disease name
- Ethylmalonic Encephalopathy, ETHE1
Genes that can be tested at the clinic
- ETHE1
More information
Factor V Leiden Thrombophilia, F5
Disease name
- Factor V Leiden Thrombophilia, F5
Genes that can be tested at the clinic
- F5
Familial Hypercholesterolemia (LDLR-related), LDLR
Disease name
- Familial Hypercholesterolemia (LDLR-related), LDLR
Genes that can be tested at the clinic
- LDLR
Galactokinase Deficiency [Galactosemia, Type II], GALK1
Disease name
- Galactokinase Deficiency [Galactosemia, Type II], GALK1
Genes that can be tested at the clinic
- GALK1
Glutaric Acidemia, Type 1, GCDH
Disease name
- Glutaric Acidemia, Type 1, GCDH
Genes that can be tested at the clinic
- GCDH
Glycine Encephalopathy (AMT-related), AMT
Disease name
- Glycine Encephalopathy (AMT-related), AMT
Genes that can be tested at the clinic
- AMT
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
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
Hemochromatosis, Type 2A, HFE2
Disease name
- Hemochromatosis, Type 2A, HFE2
Genes that can be tested at the clinic
- HFE2
Hermansky-Pudlak Syndrome (HPS1-related), HPS1
Disease name
- Hermansky-Pudlak Syndrome (HPS1-related), HPS1
Genes that can be tested at the clinic
- HPS1
Homocystinuria (CBS-related), CBS
Disease name
- Homocystinuria (CBS-related), CBS
Genes that can be tested at the clinic
- CBS
Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA
Disease name
- Hypohidrotic Ectodermal Dysplasia, X-Linked, EDA
Genes that can be tested at the clinic
- EDA
Krabbe Disease, GALC
Disease name
- Krabbe Disease, GALC
Genes that can be tested at the clinic
- GALC
Leber Congenital Amaurosis, Type CEP290, CEP290
Disease name
- Leber Congenital Amaurosis, Type CEP290, CEP290
Genes that can be tested at the clinic
- CEP290
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
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
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
Meckel-Gruber Syndrome, Type 1, MKS1
Disease name
- Meckel-Gruber Syndrome, Type 1, MKS1
Genes that can be tested at the clinic
- MKS1
Metachromatic Leukodystrophy (ARSA-related), ARSA
Disease name
- Metachromatic Leukodystrophy (ARSA-related), ARSA
Genes that can be tested at the clinic
- ARSA
Methylmalonic Aciduria (MMAB-related), MMAB
Disease name
- Methylmalonic Aciduria (MMAB-related), MMAB
Genes that can be tested at the clinic
- MMAB
Methylmalonic Aciduria, Type mut(0), MMUT
Disease name
- Methylmalonic Aciduria, Type mut(0), MMUT
Genes that can be tested at the clinic
- MMUT
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
Mucolipidosis II/III, GNPTAB
Disease name
- Mucolipidosis II/III, GNPTAB
Genes that can be tested at the clinic
- GNPTAB
Myoneurogastrointestinal Encephalopathy (MNGIE), TYMP
Disease name
- Myoneurogastrointestinal Encephalopathy (MNGIE), TYMP
Genes that can be tested at the clinic
- TYMP
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
Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5
Disease name
- Neuronal Ceroid Lipofuscinosis (CLN5-related), CLN5
Genes that can be tested at the clinic
- CLN5
Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1
Disease name
- Neuronal Ceroid Lipofuscinosis (PPT1-related), PPT1
Genes that can be tested at the clinic
- PPT1
Niemann-Pick Disease, Type C2, NPC2
Disease name
- Niemann-Pick Disease, Type C2, NPC2
Genes that can be tested at the clinic
- NPC2
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
Ornithine Transcarbamylase Deficiency, OTC
Disease name
- Ornithine Transcarbamylase Deficiency, OTC
Genes that can be tested at the clinic
- OTC
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
Pituitary Hormone Deficiency, Combined 3, LHX3
Disease name
- Pituitary Hormone Deficiency, Combined 3, LHX3
Genes that can be tested at the clinic
- LHX3
Primary Ciliary Dyskinesia, DNAI1-related, DNAI1
Disease name
- Primary Ciliary Dyskinesia, DNAI1-related, DNAI1
Genes that can be tested at the clinic
- DNAI1
More information
Primary Hyperoxaluria, Type 2, GRHPR
Disease name
- Primary Hyperoxaluria, Type 2, GRHPR
Genes that can be tested at the clinic
- GRHPR
Pyruvate Dehydrogenase Deficiency (PDHB-related), PDHB
Disease name
- Pyruvate Dehydrogenase Deficiency (PDHB-related), PDHB
Genes that can be tested at the clinic
- PDHB
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
Retinitis Pigmentosa 26, CERKL
Disease name
- Retinitis Pigmentosa 26, CERKL
Genes that can be tested at the clinic
- CERKL
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
Salla Disease, SLC17A5
Disease name
- Salla Disease, SLC17A5
Genes that can be tested at the clinic
- SLC17A5
Segawa Syndrome, (TH-related), TH
Disease name
- Segawa Syndrome, (TH-related), TH
Genes that can be tested at the clinic
- TH
Sickle-Cell Disease, HBB l
Disease name
- Sickle-Cell Disease, HBB l
Genes that can be tested at the clinic
- HBB l
Tay-Sachs Disease, HEXA u
Disease name
- Tay-Sachs Disease, HEXA u
Genes that can be tested at the clinic
- HEXA
Wilson Disease, ATP7B
Disease name
- Wilson Disease, ATP7B
Genes that can be tested at the clinic
- ATP7B
Junctional Epidermolysis Bullosa, Herlitz type, LAMC2
Disease name
- Junctional Epidermolysis Bullosa, Herlitz type, LAMC2
Genes that can be tested at the clinic
- LAMC2
Lamellar Ichthyosis, Type 1, TGM1
Disease name
- Lamellar Ichthyosis, Type 1, TGM1
Genes that can be tested at the clinic
- TGM1
Leigh Syndrome, French-Canadian Type, LRPPRC
Disease name
- Leigh Syndrome, French-Canadian Type, LRPPRC
Genes that can be tested at the clinic
- LRPPRC
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
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
Lipoid Adrenal Hyperplasia, STAR
Disease name
- Lipoid Adrenal Hyperplasia, STAR
Genes that can be tested at the clinic
- STAR
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
Metachromatic Leukodystrophy (PSAP-related) PSAP
Disease name
- Metachromatic Leukodystrophy (PSAP-related) PSAP
Genes that can be tested at the clinic
- PSAP
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
Microphthalmia/Anophthalmia (VSX2-related), VSX2
Disease name
- Microphthalmia/Anophthalmia (VSX2-related), VSX2
Genes that can be tested at the clinic
- VSX2
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
Mucolipidosis III Gamma, GNPTG
Disease name
- Mucolipidosis III Gamma, GNPTG
Genes that can be tested at the clinic
- GNPTG
Mucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU
Disease name
- Mucopolysaccharidosis, Type IIIB [Sanfilippo B], NAGLU
Genes that can be tested at the clinic
- NAGLU
Mucopolysaccharidosis, Type IX, HYAL1
Disease name
- Mucopolysaccharidosis, Type IX, HYAL1
Genes that can be tested at the clinic
- HYAL1
Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6
Disease name
- Neuronal Ceroid Lipofuscinosis (CLN6-related), CLN6
Genes that can be tested at the clinic
- CLN6
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
Pontocerebellar Hypoplasia, RARS2-related, RARS2
Disease name
- Pontocerebellar Hypoplasia, RARS2-related, RARS2
Genes that can be tested at the clinic
- RARS2
Primary Ciliary Dyskinesia, DNAI2-related, DNAI2
Disease name
- Primary Ciliary Dyskinesia, DNAI2-related, DNAI2
Genes that can be tested at the clinic
- DNAI2
Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1
Disease name
- Pyruvate Dehydrogenase Deficiency, X-Linked, PDHA1
Genes that can be tested at the clinic
- PDHA1
Retinitis Pigmentosa 28, FAM161A
Disease name
- Retinitis Pigmentosa 28, FAM161A
Genes that can be tested at the clinic
- FAM161A
Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS
Disease name
- Rhizomelic Chondrodysplasia Punctata, Type 3, AGPS
Genes that can be tested at the clinic
- AGPS
Sandhoff Disease, HEXB
Disease name
- Sandhoff Disease, HEXB
Genes that can be tested at the clinic
- HEXB
Tyrosinemia, Type 1, FAH
Disease name
- Tyrosinemia, Type 1, FAH
Genes that can be tested at the clinic
- FAH
Usher Syndrome, Type 2A, USH2A
Disease name
- Usher Syndrome, Type 2A, USH2A
Genes that can be tested at the clinic
- USH2A
Juvenile Retinoschisis, X-Linked, RS1
Disease name
- Juvenile Retinoschisis, X-Linked, RS1
Genes that can be tested at the clinic
- RS1
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
Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1
Disease name
- Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1
Genes that can be tested at the clinic
- MLC1
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
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
Mucolipidosis, Type IV, MCOLN1 u
Disease name
- Mucolipidosis, Type IV, MCOLN1 u
Genes that can be tested at the clinic
- MCOLN1 u
N-acetylglutamate Synthase Deficiency, NAGS
Disease name
- N-acetylglutamate Synthase Deficiency, NAGS
Genes that can be tested at the clinic
- NAGS
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
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
More information
Ornithine Aminotransferase Deficiency, OAT
Disease name
- Ornithine Aminotransferase Deficiency, OAT
Genes that can be tested at the clinic
- OAT
Phenylketonurea, PAH u
Disease name
- Phenylketonurea, PAH u
Genes that can be tested at the clinic
- PAH u
Primary Hyperoxaluria, Type 1, AGXT
Disease name
- Primary Hyperoxaluria, Type 1, AGXT
Genes that can be tested at the clinic
- AGXT
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
Retinitis Pigmentosa, X-linked, RPGR
Disease name
- Retinitis Pigmentosa, X-linked, RPGR
Genes that can be tested at the clinic
- RPGR
Roberts Syndrome, ESCO2
Disease name
- Roberts Syndrome, ESCO2
Genes that can be tested at the clinic
- ESCO2
Schimke Immunoosseous Dysplasia, SMARCAL1
Disease name
- Schimke Immunoosseous Dysplasia, SMARCAL1
Genes that can be tested at the clinic
- SMARCAL1
Smith-Lemli-Opitz Syndrome, DHCR7 u
Disease name
- Smith-Lemli-Opitz Syndrome, DHCR7 u
Genes that can be tested at the clinic
- DHCR7 u
Stuve-Wiedemann Syndrome, LIFR
Disease name
- Stuve-Wiedemann Syndrome, LIFR
Genes that can be tested at the clinic
- HSPG2
Usher Syndrome, Type 1C, USH1C
Disease name
- Usher Syndrome, Type 1C, USH1C
Genes that can be tested at the clinic
- USH1C
Zellweger Spectrum Disorders, (PEX6-related), PEX6
Disease name
- Zellweger Spectrum Disorders, (PEX6-related), PEX6
Genes that can be tested at the clinic
- PEX6
Zellweger Spectrum Disorders (PEX10-related), PEX10
Disease name
- Zellweger Spectrum Disorders (PEX10-related), PEX10
Genes that can be tested at the clinic
- PEX10
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
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.
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.
