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CFX:Microdeletion Full Set Plan
& 100 Genetic diseases Testing

¥400,000  ( ¥440,000 including tax )  
¥467,500for twins, incl. tax
If you are visiting a related clinic
CFX microdeletion plans are not tested at related clinics.

The Microdeletion Plans are not tested by the Tokyo Clinical Laboratory, so it will take approximately 2 weeks to obtain the test results.

The Microdeletion Full Set Plan examines the number of all chromosomes and all autosomal whole region partial deletions and duplications. Your partner and your own genetic combination will also be examined for 100 single genetic diseases for which you are at higher than normal risk. Deletion and duplication sites in other regions will also be reported.
Gender can also be identified.

  • ●1 Tests abnormalities in Chromosomes 1-22.

    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
  • ● Tests all autosomal whole region partial deletions and duplication disease abnormalities.

    Deletion
    Duplication
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
  • ● For single baby, you will be informed of the sex chromosome abnormalities and gender/sex of the baby.

    XY
    XX
    XO
    XXY
    XXYY
  • ● For twins, we will be informed whether or not a Y chromosome is present.

    Y

● Microdeletion Syndrome

The following deletions are found in chromosomes 1, 4, 17, and 22.

微小欠失のイラスト 微小欠失のイラスト

● Single Gene Diseases and Recessive Gene Disorders

Diseases caused by recessive genes (single gene diseases and recessive gene disorders) can occur when a fetus inherits two chromosomes in which the father and mother have the same genetic abnormality, as shown in the figure.
The Microdeletion Full Set Plan can examine 100 serious single gene diseases.
Learn more about 100 single gene diseases here.

微小欠失のイラスト 微小欠失のイラスト

Recommended to:

Those who want to find out everything that they can at this point in time.
Those who have had abnormalities in previous pregnancies.
Those who have had repeated miscarriages.
Those who have experienced stillbirth.
Those who have a close relative with some kind of disability.
It is also highly recommended for those who wish to take this opportunity to examine every possible detail of their pregnancy.

Diseases that can be detected by this test

ChromosomeDisease/DisorderOccurrence rate
21Down syndrome1 in 700
18Edwards syndrome1 in 6,000
13Patau syndrome1 in 10,000
ChromosomeDisease/DisorderOccurrence rate
1Trisomy/Monosomy 1
2Trisomy/Monosomy 2
3Trisomy/Monosomy 3
4Trisomy/Monosomy 4
5Trisomy/Monosomy 5
6Trisomy/Monosomy 6
7Trisomy/Monosomy 7
8Trisomy/Monosomy 8
9Trisomy/Monosomy 9
10Trisomy/Monosomy 10
11Trisomy/Monosomy 11
12Trisomy/Monosomy 12
14Trisomy/Monosomy 14
15Trisomy/Monosomy 15
16Trisomy/Monosomy 16
17Trisomy/Monosomy 17
19Trisomy/Monosomy 19
20Trisomy/Monosomy 20
22Trisomy/Monosomy 22
ChromosomeDisease/DisorderOccurrence rate
XKlinefelter’s syndrome1 in 1,000
XTurner’s syndrome1 in 2,500
XXXX syndrome1 in 1,000
YXYY syndrome1 in 1,000
ChromosomeDisease/DisorderOccurrence rate
11q21.1 microdeletion syndrome 
11p36 deletion syndrome1 in 4,000 to 10,000
11q21.1 microduplication syndrome
2Nephronophthisis
2Holoprosencephaly
2Albright syndrome-like metacarpal/brachymetatarsia
33q29 microdeletion syndrome
4Wolf-Hirschhorn syndrome1 in 50,000
5Cornelia de Lange syndrome1 in 30,000 to 50,000
5Cri-du-chat syndrome1 in 20,000 to 50,000
5Sotos syndrome1 in 10,000 to 20,000
7Pallister-Hall syndrome
7Greig’s cerebral polydactyly
7Saethre-Chotzen syndrome
7Total anterior encephalocele type 3
7Charge syndrome
7Williams syndrome
88p23.1 microdeletion syndrome
8Tricho-rhino-phalangeal syndrome type I(TRPS type I)
8Langer-Giedion syndrome
88p23.1 microduplication syndrome
10Chromosome 10q24 Duplication Syndrome
11Potocki-Shaffer syndrome
11WAGR syndrome
12Noonan syndrome
13Retinoblastoma, Developmental delay
13Total Anterior Encephalocele Type 5
ChromosomeDisease/DisorderOccurrence rate
15Prader-Willi syndrome1 in 16,000
15Angelman syndrome1 in 15,000
15Hypergrowth and intellectual disability 
1616p11.2 microdeletion
1616p13.1 microdeletion
16Rubinstein-Taybi Syndrome1 in 125,000
16Tuberous Sclerosis Type 2
1616p11.2 microduplication
1616p13.1 microduplication
16Rubinstein-Taybi Syndrome
17Miller-Dieker Syndrome
17Smith-Magenis syndrome (SMS)1 in 15,000 to 25,000
17Neuroblastoma type 1
17Potocki-Lupski syndrome
17Charcot-Marie-Tooth syndrome (CMT)
1717q21.31 microduplication syndrome
20Alagille syndrome
22Phelan-McDermid Syndrome
22DiGeorge Syndrome
2222q11.2 deletion syndrome1 in 4,000
2222q11.2 duplication syndrome
22Cat-eye syndrome (CES)1 in 50,000

X-linked Recessive Inherited Diseases

The following is a list of the major X-linked recessive inherited diseases/disorders.

Boys may develop the disease/disorder when they have a close relative with X-linked recessive inherited disease/disorder, while girls are often asymptomatic carriers.

Note that NIPT cannot determine the presence or absence of X-linked recessive inherited disease/disorder. However, it is possible to verify the possibility of developing X-linked recessive inherited disease/disorder in a relative by examining the sex of the child.

The following are typical X-linked recessive genetic disorders:


ChromosomeDisease/DisorderOccurrence rate
XGlucose-6-phosphate dehydrogenase deficiency1 in 1,000
XX-linked hypophosphatemic rickets (XLH)1 in 20,000
Xred-green colorblindness1 in 20 to 500
XHemophilia1 in 4 boys with maternal retention
XDuchenne muscular dystrophy (DMD)60% for boys 1 in 3,500 maternal retention
ChromosomeDisease/DisorderOccurrence rate
XX-linked ichthyosis1 in 2,000 to 6,000
XX-linked agammaglobulinemiaBoys 1 in 100,000
XKallmann syndrome1 in 10,000
X, YLeri-Weill dyschondrosteosis (LWD) 

New Prenatal Testing (NIPT)
Over 28,000 completed cases
You can take the test
with an easy mind.

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A quarter of those with positive results didn’t know they turned positive

2.45% of the total number of patients in the Hiro Clinic NIPT had positive results.
(*As of March 2020 – June 2021)
About 27.3% of them were not able to find out that they had tested positive for a disease other than the ones that are reported/tested by the plan they selected.

Positivity Report

Hiro Clinic Hiro Clinic Positivity Report Positivity Report

Source: Hiro Clinic Research

Assuming 100% of those who were positive, whether or not the results are reported.

Below is a chart showing the range of diseases that can be reported under the Full Set Plan based on the percentage of overall disease types for those who are found to have a disease/disorder.

Scope of report on results of Full Set Plan

Hiro Clinic Hiro Clinic NIPT NIPT Full Set Plan Full Set Plan

Source: Hiro Clinic Research

We recommend that you consider a Full Set Plan that provides detailed examination to ensure your baby’s safety.

The full-set plan is for the examination of one fetus (single fetus) or twins.
All laboratory tests are done domestically and results can usually be delivered within 1-3 days of the receiving the specimen.

New Prenatal Testing (NIPT)
Over 28,000 completed cases
You can take the test
with an easy mind.

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View Plans
BOOK NOW
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