MOLECULAR STUDY ESTUDIO MOLECULAR FAMILIAL DYSAUTONOMIA (c.2204+6T>C, p.Arg696Pro-IKBKAP) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3854

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	20 days
Information:
Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. FD occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. Familial dysautonomia is extremely rare in the general population. The diagnosis of FD is established by molecular genetic testing of IKBKAP. Two mutations account for more than 99% of mutant alleles in individuals with FD of Ashkenazi Jewish descent. The major founder mutation c.2204+6T>C (formerly IVS20+6T>C) is responsible for virtually all occurrences of FD among the Ashkenazim.
Links:
OMIM Entry - #223900 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Orphanet- Familial dysautonomia
OMIM Entry - -603722 - INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN; IKBKAP

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