Gaucher, disease (N370S,L444P,R463C,84GG,IVS2+1 - GBA) screening, whole blood

Description, Method, Studied Mutations Modification

Test code: 1671

Effective update from 29/05/2020

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Gaucher, disease (N370S,L444P,R463C,84GG,IVS2+1 - GBA) screening, whole blood Method: Sequencing Method Studied mutations: N370S,L444P,R463C,84GG,IVS2+1	GAUCHER DISEASE (PERINATAL, TYPES I, II, III AND IIIC) · GBA (c.84dupG; c.115+1G>A; p.Asn409Ser; p.Leu483Pro)· HOT SPOT Method: Hot Spot  Studied mutations: 844G (c.84dupG); IVS2+1 (c.115+1G>A); N370S (p.Asn409Ser),L444P(p.Leu483Pro)

 

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