CASP8 Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of the clinical diagnosis
- Differentiation from malignant forms of lymphoproliferation and from other sub-types of ALPS
- Development of an appropriate treatment plan for affected individuals
- Development of an appropriate medical surveillance plan for relatives at risk of lymphoma
- Lab Method:
- Capillary Sequencing Reflex to Exon Array
- Test Code:
- Turnaround Time:
- 6-8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 283: Autoimmune hemolytic anemias, Autoimmune hemolytic disease, Chronic cold hemagglutinin disease, Cold agglutinin disease or hemoglobinuria Hemolytic anemia
- 202.x: Malignant neoplasms of lymphoid and histiocytic tissue, specific decimal required
- 238.7: Other lymphatic and hematopoietic tissues
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- Zhu, S. et al., Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome, Human Genetics 119:284-294, 2006.
- Cerutti E. et al, Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. BMC Immunol 8:22, 2007.
- Chun, H., et al., Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419: 395-399, 2002.
- Wang, J., et al., Inherited caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 47-58, 1999
- Su H et al, Genetic Defects of Apoptosis and Primary Immunodeficiency. Immunol Allergy Clin N Am, 28:329, 2008.
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