Stereocilin gene fragmentation analysis
Test covered by the reimbursement:
YES
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab
…
Turnover time:
3 weeks
STATIM:
3 days
Material:
Peripheral blood
| 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab
| 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood
| 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from chorionic villi
| 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from amniotic fluid
| 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from cordocentesis
| 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from the product of conception
| 50–100 ng/μL in microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from cultured cells
| 30–100 ng/μL of isolated DNA from cultured cells in a microtube (Eppendorf type)
Storage after examination: stored in the DNA archive 15°C
Quick test description:
Targeted testing for STRC gene deletion by QF-PCR (Stereocilin gene) responsible for hearing impairment DFNB16.
Test details:
Testing for mutations in the STRC gene (Stereocilin gene) is performed by quantitative comparative fluorescence PCR. Using this method, regions of introns 18 and 26, containing differences in fragment length between the STRC gene and pseudogene, are determined. In the Czech Republic, it is the second most common candidate gene in isolated hearing impairment. The mutation was detected in about 5.5% of all patients tested and in 13.5% of patients in the familial incidence group. Hearing impairment is isolated and usually mild (most commonly moderate to severe hearing loss).