GAUCHER DISEASE (GD)
DNA ANALYSIS
Also see: Beta-D Glucosidase - Biochemical Analysis

Gaucher Disease (GD), an autosomal recessive genetic disorder consisting of non-neuronopathic type I and the more severe neuronopathic types II and III, is an inborn error of glycosphingolipid catabolism resulting in lysosomal accumulation of glycosylceramides. Four point mutations in the acid ß-glucosidase (GBA) gene on chromosome 1q21 are responsible for the majority (96%) of mutations leading to GD in the Ashkenazi Jewish Population. The carrier frequency and disease incidence have been estimated at 1/11 and 1/450 among Ashkenazi Jews. In the absence of a family history of GD, a negative test result lowers an Ashkenazi Jewish individual's risk of being a GD carrier from 1 in 11 to 1 in 170.

Reasons for Referral:

Confirmation of diagnosis
Carrier identification

Testing Methodology:

Direct DNA analysis is performed on four mutations in the GBA gene using DNA amplification (PCR) and an allele-specific oligonucleotide hybridization methodology. The mutations tested are: N370S, IVS2+1A, 84GG, L444P.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adults: 14 cc; Child: 6 cc; Infant: 2-3 cc
Requisition form must accompany specimen. Prior to any genetic testing, we recommend genetic counseling and request that the subject, or a legal guardian, sign our consent form and submit it with the sample.

Turnaround Time:

3 weeks

CPT Codes and Prices:

83898x2, 83890, 83893x6, 83896x7, 83912

Shipping Information

Forms:

>> DNA Requisition

Test Code:

6033