Gaucher Disease (GBA) Sequencing

Background information for Gaucher Disease (GBA) Sequencing:
Characteristics: Gaucher disease (GD) is a lysosomal storage disorder with phenotypes ranging from perinatal lethality to lack of symptoms. There are three GD subtypes. Type 1 GD manifests with bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease but no central nervous system (CNS) involvement. Type 2 GD exhibits CNS symptoms before age 2 and rapidly progresses resulting in death by age 4. Type 3 GD presents as early as age 2 with CNS symptoms that slowly progress resulting in death during the third or fourth decade.
Incidence: 1 in 900 Ashkenazi Jewish individuals; approximately 1 in 57,000 to 1 in 75,000 in general population.
Inheritance: Autosomal recessive.
Cause: Two pathogenic GBA variants on opposite chromosomes.
Clinical Sensitivity: 99 percent.
Methodology: Long range PCR followed by bidirectional sequencing of all coding regions and intron-exon boundaries of the GBA gene.
Analytical Sensitivity and Specificity: approximately 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants, deep intronic variants, large deletions/duplications/insertions, gene conversion and complex gene events may not be detected.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.