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Muckle-Wells syndrome
Familial Cold Urticaria syndrome
CINCA/NOMID Syndrome
CIAS1 (Cryopyrin)
For affected individuals, mutation testing is performed by complete bi-directional sequence analysis of exon 3 of the CIAS1 gene which codes for Cryopyrin. To date, all mutations in MWS/FCAS/NOMID/CINCA have been identified in exon 3 of the CIAS1 gene, which has a total of 9 exons. In a recent paper, mutations were identified in all 12 MWS/FCAS families in which they were sought. For CINCA/NOMID, mutations in exon 3 of CIAS1 gene have been reported in 65% of patients.
Using genomic DNA obtained from buccal brushes (GeneDx kits only) or whole blood (1-5 mL in EDTA), exon 3 of the CIAS1 gene is obtained and analyzed using bi-directional sequencing. Carrier detection in relatives and prenatal diagnosis is available once the mutation in a family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
CIAS1, Cryopyrin, NOMID, CINCA, MWS, FCAS, muckle wells, muckle-wells, fever, inflammatory, cold, pyrin, arthralgia
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