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CINCA syndrome (sequence analysis of NLPR3 gene)
NLRP3
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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, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 547




Associated Tests


Muckle-Wells syndrome | CINCA syndrome | Deafness, autosomal dominant 34, with or without inflammation | Familial cold-induced inflammatory syndrome 1 (deletion/duplication analysis on NLRP3 gene)
Periodic Fever Syndrome (NGS panel of 8 genes)
Immunodeficiencies - auto-inflammatory diseases (WES based NGS panel of 34 genes, including CNV analysis)
Hereditary amyloidosis (NGS panel of 19 genes)