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Test Code GAUCHE DNA Gaucher Disease Mutation Analysis (11 mutations)

Clinical System Name

Gaucher Mutation Analysis (11 mutations) Request


GBA gene 11 mutation panel


This test is used to provide additional information regarding diagnosed patients, provide carrier testing for at-risk family members or general population screening.


This 11 mutation panel includes: N370S, L444P, 84GG, IVS2+1g>a, V394L, D409H, D409V, R463C, R463H, R496H, 55-bp deletion (exon9).


Detection rate is 96% in Ashkenazi Jewish population and 70% in non-Ashkenazi Jewish population, on average.

Sample Requirements

Specimen: Whole blood, cord blood

Container(s): Lavender/EDTA, Yellow/ACD A or B

Preferred Vol: 3 mL

Minimum Vol: 1 mL


Note: Heparin samples (Green tops) are unacceptable.


Specimen: Extracted DNA

Minimum: 10µg

Note: DNA concentration minimum 100 µg/mL; 260/280 ratio 1.70-2.00


Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2


Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.


Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen ok


Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.


STAT Performed TAT
Contact lab Monday - Friday 2-3 weeks


Performing Laboratory

Seattle Children's Laboratory


Department:  Molecular Genetics Laboratory

Phone: 206-987-3872


Lab Client Services: 206-987-2617


Lab Genetic Counselor:

Reference Range

Interpretive report will be provided


Method: PCR + Sequencing


Limitations: This test is for targeted 11 mutation analysis only.

CPT Codes

81251 (updated 2/3/16 by jconta)

Special Instructions

Links to: Gaucher Disease GeneReview


Molecular Genetics

Clinical Utility

Gaucher disease type I is a treatable lysosomal storage disease leading to hepatosplenomegaly, anemia and thrombocytopenia, and skeletal involvement including osteoporosis, osteonecrosis, lytic lesions and Erlenmeyer flask deformity. Gaucher disease type II presents in infancy with severe neurologic and visceral involvement but without skeletal manifestations. Type III presents as Type I but with the addition of neurologic involvement. Inheritance is autosomal recessive. Type I Gaucher is common in the Ashkenazi Jewish population, with a prevalence of 1/450 – 1/1000.

Molecular testing for these 11 mutations will identify approximately 96% of alleles associated with Gaucher disease in the Ashkenazi Jewish population and approximately 70% of alleles in the non-Askenazi Jewish Caucasian population.


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