CFX：Microdeletion Full Set Plan
& 100 Genetic diseases Testing
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.
● Tests all autosomal whole region partial deletions and duplication disease abnormalities.
● For single baby, you will be informed of the sex chromosome abnormalities and gender/sex of the baby.
● For twins, we will be informed whether or not a Y chromosome is present.
● Microdeletion Syndrome
The following deletions are found in chromosomes 1, 4, 17, and 22.
● 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.
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
|21||Down syndrome||1 in 700|
|18||Edwards syndrome||1 in 6,000|
|13||Patau syndrome||1 in 10,000|
|X||Klinefelter’s syndrome||1 in 1,000|
|X||Turner’s syndrome||1 in 2,500|
|X||XXX syndrome||1 in 1,000|
|Y||XYY syndrome||1 in 1,000|
|1||1q21.1 microdeletion syndrome|
|1||1p36 deletion syndrome||1 in 4,000 to 10,000|
|1||1q21.1 microduplication syndrome|
|2||Albright syndrome-like metacarpal/brachymetatarsia|
|3||3q29 microdeletion syndrome|
|4||Wolf-Hirschhorn syndrome||1 in 50,000|
|5||Cornelia de Lange syndrome||1 in 30,000 to 50,000|
|5||Cri-du-chat syndrome||1 in 20,000 to 50,000|
|5||Sotos syndrome||1 in 10,000 to 20,000|
|7||Greig’s cerebral polydactyly|
|7||Total anterior encephalocele type 3|
|8||8p23.1 microdeletion syndrome|
|8||Tricho-rhino-phalangeal syndrome type I（TRPS type I)|
|8||8p23.1 microduplication syndrome|
|10||Chromosome 10q24 Duplication Syndrome|
|13||Retinoblastoma, Developmental delay|
|13||Total Anterior Encephalocele Type 5|
|15||Prader-Willi syndrome||1 in 16,000|
|15||Angelman syndrome||1 in 15,000|
|15||Hypergrowth and intellectual disability|
|16||Rubinstein-Taybi Syndrome||1 in 125,000|
|16||Tuberous Sclerosis Type 2|
|17||Smith-Magenis syndrome (SMS)||1 in 15,000 to 25,000|
|17||Neuroblastoma type 1|
|17||Charcot-Marie-Tooth syndrome (CMT)|
|17||17q21.31 microduplication syndrome|
|22||22q11.2 deletion syndrome||1 in 4,000|
|22||22q11.2 duplication syndrome|
|22||Cat-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:
|X||Glucose-6-phosphate dehydrogenase deficiency||1 in 1,000|
|X||X-linked hypophosphatemic rickets (XLH)||1 in 20,000|
|X||red-green colorblindness||1 in 20 to 500|
|X||Hemophilia||1 in 4 boys with maternal retention|
|X||Duchenne muscular dystrophy (DMD)||60% for boys 1 in 3,500 maternal retention|
|X||X-linked ichthyosis||1 in 2,000 to 6,000|
|X||X-linked agammaglobulinemia||Boys 1 in 100,000|
|X||Kallmann syndrome||1 in 10,000|
|X, Y||Leri-Weill dyschondrosteosis (LWD)|
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.
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
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.