MOLECULAR STUDY MUCKLE-WELLS SYNDROME (NLRP3) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4114

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Muckle-Wells syndrome (MWS) is rare disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation and secondary amyloidosis (AA type). The first symptoms of MWS are moderate fever and non-pruriginous urticaria that may become invalidating because they are almost permanent and begin during childhood. Other main inflammatory signs are located in the joints (arthralgia or arthritis) and eyes (conjunctivitis). Neurosensory hearing loss occurs during adolescence. The disease may be severe if generalized amyloidosis of the AA type occurs. MWS is transmitted as an autosomal dominant disorder with variable expression within a family and from one family to another. The gene responsible for MWS is CIAS1 or NLRP3 and is localized on chromosome 1q44.
Links:
OMIM Entry - # 191900 - MUCKLE-WELLS SYNDROME; MWS
Orphanet- Muckle Wells syndrome
OMIM Entry - - 606416 - NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3

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