#ExistInterpData>Background information for Gaucher (GBA) 8 Mutations:
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 individuals, unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: Deleterious GBA gene mutations.
Mutations Tested: 84G>GG, IVS2(+1)G>A, N370S, del55bp, V394L, D409H, L444P, R496H.
Clinical Sensitivity: 90 percent in Ashkenazi Jewish individuals, at least 55 percent in other ethnicities.
Methodology: PCR and allele-specific primer extension by bead array with fluorescence detection.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than 84G>GG, IVS2(+1)G>A, N370S, del55bp, V394L, D409H, L444P, R496H will not be detected.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.