In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015. We will resume our normal schedule on Tuesday, September 8, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
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
- Alternative Specimen:
- Oral Rinse (30-40 mL), Dried Blood Spots
- 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
- 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.