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Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)
ABCC6, ABL1, ACTA2, ACVR1, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B,
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Methodology

NGS


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, Dermatology, Rare diseases, Pediatrics


CGC Reference

- 5591




Associated Tests


Vitreoretinopathy (NGS panel of 27 genes)
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis)
Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Stickler syndrome (NGS panel of 6 genes)
Clefting (WES based NGS panel of 231 genes, including CNV analysis)