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Aortic aneurysm, familial thoracic 6 (sequence analysis of ACTA2 gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


- 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)