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Ichthyosis, congenital, AR 11 (deletion/duplication analysis of ST14 gene)
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Real-time quantitative PCR (RT-qPCR)

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


- Dermatology, Rare diseases, Pediatrics

CGC Reference

- 5339

Associated Tests

Ichthyosis, congenital, AR 11 (sequence analysis of ST14 gene)
Adducted thumb-clubfoot syndrome (sequence analysis of CHST14 gene)
Arthrogryposis (NGS panel for 49 genes)
Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)