Diagnostic testing for Gaucher disease. Carrier screening for Gaucher disease.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Lysosomal storage disease with extreme symptomatic variability from lack of symptoms to perinatal lethality. Three subtypes have been described based on their characteristics. Type 1 has bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease but no primary CNS disease. Type 2 has CNS onset before age two and progresses rapidly to death by age four. Type 3 may have onset by age two but is slowly progressive, resulting in death usually in one's 20's or 30's.
Incidence: 1 in 900 Ashkenazi Jewish individual;, unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: PathogenicGBA gene mutations.
Mutations Tested: c.115+1G>A, p.L29Afs (c.84dupG), p.N409S (c.1226A>G), c.1263_1319del55, p.V433L (c.1297G>T), p.D448H (c.1342G>C), p.L483P (c.1448T>C), and p.R535H (c.1604G>A).
Clinical Sensitivity: 90 percent in Ashkenazi Jewish individuals; at least 55 percent in other ethnicities.
Methodology: Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0051440||Gaucher Disease (GBA) 8 Mut, Allele 1||46988-2|
|0051441||Gaucher Disease (GBA) 8 Mut, Allele 2||46988-2|
|0051442||Gaucher Disease (GBA) 8 Mut, Interp||35693-1|
|2001312||Gaucher Disease (GBA) 8 Mut, Specimen||31208-2|
- Beta-glucocerebrosidase deficiency
- Gaucher Disease