MOLECULAR STUDY GAUCHER DISEASE (MUTATIONS N370S, L444P, R463C - GBA) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4130

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	27 days
Information:
Gaucher disease is a lysosomal storage disorder characterized by the presence of glucosylceramide (or glucocerebroside) deposits in the reticuloendothelial cells of the liver, spleen and bone marrow. The incidence of Gaucher disease in the general population is around 1 in 60,000, but may be as high as 1 in 1000 among Ashkenazi Jews. The prevalence is around 1 in 100,000. The clinical manifestations are extremely variable. Classically, three main phenotypes can be distinguished. Type 1 is the chronic and nonneurological form representing 95% of all cases. It is a heterogeneous disease characterized by the association of organomegaly (spleen, liver), bone disease (pain, bone infarcts, osteonecrosis) and cytopenia (thrombocytopenia, anemia and, more rarely, neutropenia). The activity of some biological markers - including chitotriosidase (an angiotensin converting enzyme), ferritin and tartrate-resistant acid phosphatase (TRAP) - is also increased. Type 2 is the acute neurological form, characterized by early-onset (during the first year of life) brainstem dysfunction, rapid progression and associated organomegaly. Type 3 is the subacute neurological form and is characterized by progressive encephalopathy (oculomotor apraxia, epilepsy and ataxia), associated with the manifestations present in the type 1 disease with onset during childhood or adolescence. The encephalopathy may be the first sign of the disease or may occur later in the disease course. A perinatal-lethal form has also been reported and manifests as a decrease or absence of fetal movements or anasarca. Gaucher disease in transmitted an autosomal recessive manner and is caused by mutations in the GBA gene (1q21), leading to a deficiency in glucocerebrosidase (also referred to as glucosylceramidase or acid beta-glucosidase). In rare cases it is caused by mutations in the PSAP gene leading to deficiency of the activator protein saposin C. Diagnosis can be confirmed by measurement of the level of glucocerebrosidase in circulating leukocytes. At present, two specific treatments for Gaucher disease are commercially available, but enzyme substitution therapy using the analogue imiglucerase remains the treatment of choice and is indicated for use in patients with type 1 or type 3 disease. Substrate reduction therapy using miglustat provides an alternative second-line treatment. It is important that patients with Gaucher disease receive treatment before the appearance of sequelae that are unresponsive to these therapies. *Author: Drs T. Billette, J. Stirnemann and N. Belmatoug (October 2006)*.
Links:
OMIM Entry - # 230800 - GAUCHER DISEASE, TYPE I
Orphanet- Gaucher disease type 1
Orphanet- Gaucher disease
OMIM Entry - - 606463 - GLUCOSIDASE, BETA, ACID; GBA

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