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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. Using genomic DNA obtained from buccal (cheek) swabs or blood, bi-directional sequence analysis of the 9-exon TNFRSF6 gene is performed. Mutations in TNFRSF6 are distributed throughout the 9 exons of the gene, but two-thirds are found in exons 7-9.
Information Sheet, including prices and CPT codes (TNFRSF6)
Consent Document (TNFRSF6)
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
An estimated 10% of ALPS patients have Type II, defined as mutations in the CASP10 gene (Type IIA) or CASP8 gene (Type IIB). Using the same specimen provided for TNFRSF6 testing, bi-directional sequence analysis is performed on exons 2-10 of the CASP10 gene and exons 3-10 of the CASP8 gene. The two tests, CASP10 and CASP8, are ordered individually and can be sequential or concurrent.
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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