Predictive testing of familial mutation
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
Cultured cells
| 1.5 ml of cultured cells in a microtube (Eppendorf type)
Storage after examination: 180 days 2 – 8°C
Test details:
The Sanger sequencing is used for the predictive testing of patients with a known familial mutation. A genetic analyzer – the ABI 3130 sequencer – is used to determine the DNA sequence (nucleotide sequence). PCR products are detected during capillary electrophoresis using a computer-connected laser detector. The laser captures the fluorescence and the nucleotide sequence is subsequently determined.