The most common cause of inherited intellectual impairment
is Fragile X syndrome
X-LINKED CARRIER TEST
X-LINKED CARRIER TEST
The X-Linked Carrier test is a specific genetic test for women who wants to get pregnant. It is a genetic screening panel containing 12 genes associated with recessive diseases associated specifically with the X chromosome. The X-Linked Carrier test reveals if the female is a carrier of these genetic diseases and thereby if she risks passing them on to her children. As two copies of the recessive mutations are needed to cause disease, these are most prominent in boys.
X-LINKED RECESSIVE HEREDITARY DISEASEIn boys: One copy of the mutated gene is sufficient to cause the disease.
In girls: Two copies of the mutated gene are needed to cause the disease, but it is more likely the woman inherits only one copy of the mutated gene and be a healthy carrier.
X-LINKED CARRIER TEST INCLUDES:
The X-Linked Carrier gene panel is also included in the much larger Genes4Life panel but can be bought individually if only the X-Linked Carrier panel genes are of interest. The gene panel consists of 12 genes that cause X-linked recessive hereditary diseases:
WHY CHOOSE AMPLEXA GENETICS X-LINKED CARRIER TEST FOR YOUR PATIENT?
- The panel includes 12 X-linked genes
- Sequencing of coding regions +/- 10 flanking intronic bases
- ≥99% of targeted genes covered at ≥20x sequenced by Next Generation Sequencing
- FMR1 is analyzed for CGG repeats expansion with TP-PCR
- Allow quality SNV’s are verified by Sanger sequencing
DISEASES RELATED TO THE GENES ANALYZED IN THE X-LINKED CARRIER TEST
Prevalence: 1 in 4000 boys and 1 in 5000-8000 girls are born with the disease. In affected boys, 60% are diagnosed with autism spectrum disorders and 90% have intellectual disabilities: in affected girls, 30% have intellectual disabilities. For individuals with FXS, anxiety disorders occur between 70-80% in all cases.
Genetic diseases: Adrenoleukodystrophy. Affected genes: ABCD1 Gene ID: 215 Analysis technique: NGS
Prevalence: is the most common peroxisomal disorder, with an estimated birth prevalence of 1/17,000 (male and female).
Genetic diseases: Choroideremia. Affected genes: CHM. Gene ID: 1121 Analysis technique: NGS
Prevalence: The prevalence is estimated between 1/50,000-1/100,000
Genetic diseases: Alport syndrome. Affected genes: COL4A5. Gene ID: 1287 Analysis technique: NGS
Prevalence: The global prevalence of Alport syndrome (AS) is unknown. The prevalence at birth in Finland is estimated at 1/53,000. In the USA, Alport syndrome reportedly accounts for up to 2% of new cases of pediatric ESRD.
Genetic diseases: Duchenne muscular dystrophy (DMD). Affected genes: DMD. Gene ID: 1756 Analysis technique: NGS
Prevalence: DMD primarily affects males with an estimated male birth prevalence of 1/3,500-1/9,300.
Genetic diseases: Hypohidrotic ectodermal dysplasia. Affected genes: EDA. Gene ID: 1896 Analysis technique: NGS
Prevalence: HED has a prevalence of approximately 1/15,000. CST syndrome is the most frequent sub-type (80% of cases), with an incidence in males of 1/50,000 to 1/100,000 births
Genetic diseases: Hemophilia A (HEMA). Affected genes: F8. Gene ID: 2157 Analysis technique: NGS
Prevalence: Prevalence is estimated at around 1 in 6,000 males. It primarily affects males, but females may also be symptomatic with a generally milder clinical picture.
Genetic diseases: Hemophilia B (HEMB). Affected genes: F9. Gene ID: 2158 Analysis technique: NGS
Prevalence: is estimated at around 1 in 30,000 males.
Genetic diseases: Emery-Dreifuss muscular dystrophy 6. Affected genes: FHL1, IDS. Gene ID: 2273, 3423 Analysis technique: NGS
Genetic diseases: Fabry disease. Affected genes: GLA. Gene ID: 2717 Analysis technique: NGS
Prevalence: Worldwide, the average prevalence at birth is approximately 1/15,000.
Genetic diseases: Retinoschisis1, X-linked, juvenile (RS1) Affected genes: RS1 Gene ID: 6247 Analysis technique: NGS
Prevalence: X-linked retinoschisis prevalence is estimated to range between 1/5,000-1/25,000 males worldwide.
- Blood (2-5 ml EDTA-blood),
- Saliva sample in preservation solution (minimum 2 mL) or
- DNA (minimum 3 µg)