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Autosomal recessive cutis laxa type 2A (sequence analysis of ATP6V0A2 gene)
ATP6V0A2
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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

CPT Codes

- 81479

Specialties

- Dermatology, Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 698




Associated Tests


Cutis Laxa (NGS panel for 9 genes)
Vitreoretinopathy (NGS panel of 27 genes)
Epileptic encephalopathy (WES based NGS panel of 137 genes, including CNV analysis)
Lysosomal and peroxisomal diseases (NGS panel of 108 genes)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)