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Multisystemic smooth muscle dysfunction syndrome (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

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 2305




Associated Tests


Smooth muscle dysfunction (R179H mutation on ACTA2 gene)
Aortic aneurysm, familial thoracic 6 (sequence analysis of ACTA2 gene)
Moyamoya disease 5 (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)