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Kindler syndrome (sequence analysis of FERMT1 gene)
FERMT1
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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

CPT Codes

- 81479

Specialties

- Dermatology, Rare diseases, Pediatrics


CGC Reference

- 1543




Associated Tests


Kindler syndrome (deletion/duplication analysis of FERMT1 gene)
Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis)
Epidermolysis bullosa (NGS panel of 23 genes)