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Test Code LAB1850 Gaucher DNA Sequencing

Clinical System Name

Gaucher (GBA) DNA Analysis


The Seattle Children's Hospital Molecular Laboratory offers different options for Gaucher DNA Analysis:

  • Gaucher Disease full gene sequencing - Sequencing of all 11 exons and their flanking regions will detect greater than 98% of mutations in individuals affected with Gaucher disease.  This test is primarily used for genotyping confirmed cases or as a secondary confirmation of diagnosis. Sequencing can also be used for carrier testing.  
  • Gaucher Disease 11 Mutation Panel - This 11 mutation panel includes: N370S, L444P, 84GG, IVS2+1g>a, V394L, D409H, D409V, R463C, R463H, R496H, 55-bp deletion (exon9). This test is used to provide additional information regarding diagnosed patients, provide carrier testing for at-risk family members or general population screening.  Detection rate is 96% in Ashkenazi Jewish population and 70% in non-Ashkenazi Jewish population, on average. 
  • Gaucher Disease Targeted Variant Analysis - For targeted analysis of variants previously identified through clinical testing of a family member or research testing of the individual.  Please provide copies of proband reports when requesting targeted variant analysis for cases NOT performed by Seattle Children's Lab.


Sample Requirements

Note: For patients who have had a whole blood transfusion, wait 10 days post transfusion to draw for genetic testing. No wait time is necessary for blood or saliva collection if the patient received leuko-reduced red cells or plasma.


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 from EDTA blood

Minimum: 10µg

Note: Isolation of nucleic acids for clinical testing must be performed in a CLIA-certified

laboratory or a laboratory meeting equivalent requirements as determined by the CAP

and/or the CMS. DNA concentration minimum 50 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:

CPT Codes

Gaucher Full Gene Sequencing 81479
Gaucher 11 Mutation Panel    81251
Gaucher Targeted Variant Analysis 81403



Full gene sequencing - bi-directional sequencing of all 11 exons and exon-intron boundaries

11 Mutation Panel and Targeted Variant - bi-directional sequencing of targeted variants

Limitations: Mutations in the promoter region, large deletions, large duplications, or rare recombinant mutations may not be detected by this method.

Reference Range

Interpretive report will be provided


Molecular Genetics

Special Instructions

Links to: Gaucher Disease GeneReview

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.