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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.
If interested in ordering testing for this gene as part of a comprehensive testing panel for periodic fever syndromes (including MEFV, TNFRSF1A, MVK, NLRP3 (CIAS1), ELANE (ELA2), PSTPIP1 and LPIN2), please
click here
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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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