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Keratosis follicularis (sequence analysis of LRP1 gene)
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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

CGC Reference

- 5380

Associated Tests

Vitiligo-associated multiple autoimmune disease susceptibility (sequence analysis of NLRP1 gene)
Periodic Fever Syndrome (NGS panel of 8 genes)
Immunodeficiencies - auto-inflammatory diseases (WES based NGS panel of 34 genes, including CNV analysis)
Familial cold autoinflammatory syndrome 2 (sequence analysis of NLRP12 gene)