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.
Find the record of the test by clicking here