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Ichthyosis, AR 4B (harlequin) (sequence analysis of ABCA12 gene)
ABCA12
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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

- Dermatology, Rare diseases, Pediatrics


CGC Reference

- 3156




Associated Tests


Ichthyosis, AR 4B (harlequin) (deletion/duplication analysis on ABCA12 gene)
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis)