Gaucher DNA Test (Sendout)

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.

Test Information:

• Gaucher Disease Panel (11 variants): This 11 variant 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 DNA Sequencing (GBA): Sequencing of all 11 exons and their flanking regions will detect greater than 98% of variants 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.
• Targeted analysis of familial variants is also available.

Patient Preparation: 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.

Ordering Requirements:

• A completed Seattle Children's Hospital Lab Molecular Genetics requisition must accompany all orders.
  • Indicate the test requested by selecting the Gaucher Disease Panel (11 variants) or the Gaucher DNA Sequencing (GBA).
  • Leave the billing section blank to be completed by Sendouts staff.

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

Outside Laboratories:

• Refrigerate whole blood while awaiting shipment. Transport with a cold pack.
• A completed Seattle Children's Hospital Molecular Genetics requisition is required for testing. Leave the Billing section blank to be completed by Sendouts staff.

Stability (Whole Blood): Refrigerated (preferred): 7 days; Ambient: 3-5 days; Frozen: Unacceptable.

• Note: Whole blood samples >7 days old may be submitted to be assessed by SCH lab for acceptability.

Refrigerate whole blood in original collection container.

Login: GSEND1-;REFRIG WB

• GSNDT1: SEACHL
• GSTYP1: WB
• GTSRQ1: ;Gaucher DNA Sequencing Test (SEACHL Test LAB1850)

Sendouts:

• Order SEACHL Test: LAB1850
• Provider must complete the SEACHL Molecular Genetics requisition and select either the Gaucher Disease Panel (11 Variants) or Gaucher DNA Sequencing (GBA). Gaucher Targeted Variant Analysis is also available (SEACHL Test LAB1915).
• Affix CAST "Bill and Send Results To" labels to the requisition.
• Send samples at refrigerated temperature with the completed requisition.

Stability (Whole Blood): Refrigerated (preferred): 7 days; Ambient: 3-5 days; Frozen: Unacceptable.

• Note: Whole blood samples >7 days old may be submitted to be assessed by SCH lab for acceptability.

CPTs:

• Gaucher 11 Mutation Panel: 81251
• Gaucher Full Gene Sequencing: 81479