Monday, June 29, 2015

Chédiak-Higashi syndrome (LYST) sequencing, whole blood

New Test in NOÛS Catalog

Test Code: 5234

Sample:
Whole blood - EDTA (5 ml)
Conservation:
Refrigerated
Method:
Sequencing Method
Set Up Days:
Daily
Delivery term:
45 days
Information:
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. Loss-of-function mutations in the LYST gene (1q42.1-q42.2) are associated with the severe, childhood-onset form of CHS. Missense mutations appear to underlie the atypical form. CHS follows an autosomal recessive pattern of inheritance. Genetic counseling should be provided to asymptomatic carriers and to affected adults.

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1 comment:

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