Gaucher Disease (GBA) Sequencing

Casandra

Casandra Test Code AR89671Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001648CPT Code 81479

Gaucher Disease (GBA) Sequencing

Also known as: GBA FGS

Clinical Use

Order Test

Use

Gaucher disease (GD) is a lysosomal storage disorder with varying phenotypes from perinatal lethality to asymptomatic. There are three subtypes of GD, with Type 1 manifesting bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease but no CNS involvement. Type 2 presents CNS symptoms before age 2 and progresses rapidly, leading to death by age 4. Type 3 appears from age 2 with slowly progressing CNS symptoms resulting in death in the third or fourth decade. The test is used for carrier screening or diagnostic testing for GD in non-Ashkenazi Jewish individuals, detecting two pathogenic GBA variants on opposite chromosomes.

Special Instructions

Informed consent for genetic testing is required for New York patients, along with a patient history form for Gaucher Disease Testing. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Limitations

Diagnostic errors can occur due to rare sequence variations. The test may not detect variants in regulatory regions, deep intronic variants, or large deletions/duplications/insertions. Gene conversion and complex gene events might also go undetected. The test involves long-range PCR followed by bidirectional sequencing of all coding regions and intron-exon boundaries of the GBA gene.

Test Details