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Aortic aneurysm, familial thoracic 6 (sequence analysis of ACTA2 gene)
ACTA2
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Methodology
Sanger sequencing
Specimen Requirements
| Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
|---|---|---|---|---|
| DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 60
Specialties
- Cardiology, Rare diseases
CGC Reference
- 2303
Associated Tests
Smooth muscle dysfunction (R179H mutation on ACTA2 gene)
Moyamoya disease 5 (sequence analysis of ACTA2 gene)
Multisystemic smooth muscle dysfunction syndrome (sequence analysis of ACTA2 gene)
Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel of 66 genes, including CNV analysis)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)