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Autoimmune Lymphoproliferative Syndrome (ALPS) Type IA
Autoimmune Lymphoproliferative Syndrome (ALPS) Type IIA and IIB
TNFRSF6 (Tumor Necrosis Factor Receptor Superfamily, Member 6)
CASP10 and CASP8 (Caspase 10 and 8)
Autoimmune lymphoproliferative syndrome is an autosomal dominant condition that generally presents in early childhood, and is characterized by chronic, non-malignant lymphadenopathy, usually with autoimmunity. Splenomegaly and/or hepatomegaly are common. The autoimmunity most often is directed against erythrocytes, platelets and neutrophils. In some patients, skin rashes, glomerulonephritis, arthritis, Guillan-Barré syndrome and autoimmune hepatitis may occur. The disorder can vary significantly in severity, even within families. Some individuals have only positive laboratory findings.
About 90% of ALPS cases are type IA and have mutations in the TNFRSF6 gene, coding for the FAS protein involved in inducing apoptosis in mature lymphocytes. An estimated 10% of ALPS patients may have Type II, defined as mutations in the CASP10 gene (Type IIA) or CASP8 gene (Type IIB). The only know patients with Type IIB also had immunodeficiency.
Any combination of these genes can be tested on 1-5 mL blood in EDTA, concurrently or sequentially. For more details see the two Information Sheets linked below.
Information Sheet, including prices and CPT codes (TNFRSF6)
Consent Document (TNFRSF6)
Information Sheet, including prices and CPT codes (CASP10, CASP8)
Consent Document (CASP10, CASP8)
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
TNFR, Fas, CD95, Hodgkin, Apo-1, caspase
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