The assay covers eight of the most frequent GBA mutations:
84GG [452 +G], IVS2+1 [484 G>A], N370S [1226 A>G], V394L [1297 G>T], L444P [1448 T>C], R496H [1604 G>A] and two recombinant alleles [RecNci-I, RecTL].
Gaucher disease is the most prevalent glycolipid storage disorder known. The disease is of autosomal recessive inheritance and characterized by glucocerebrosidase deficiency due to mutations in the GBA gene located on chromosome 1q. Since the GBA sequence was first published in 1985, more than 120 disease-producing alleles have been described. These include point mutations as well as complex alleles resulting from genetic rearrangements between the functional gene and the nearby pseudogene. Enzyme deficiency results in accumulation of glucocerebroside within the reticuloendothelial system, leading to a very heterogenous range of clinical manifestations, among them hepatosplenomegaly, anemia, thrombocytopenia, bone marrow suppression, bone lesions, and hyperpigmentation. The disease is panethnic and has been divided into three clinical phenotypes (types I-III), with the chronic non-neuronopathic type I being most common. In the Ashkenazi Jewish population type I disease frequency is estimated to 1 in 500, with a carrier rate of approximately 1 in 10. Enzyme replacement therapy is available for Type I Gaucher disease, resulting in clinical improvement and increased quality of live.