CASP8 Gene Sequencing

Forms and Documents

Test Details

CASP8
  • 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
  • Capillary Sequencing Reflex to Exon Array

Ordering

2612
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
No
Yes
  • 283 Acquired hemolytic anemias
  • 202.x Malignant neoplasms of lymphoid and histiocytic tissue, specific decimal required
  • 238.7 Other lymphatic and hematopoietic tissues
* For price inquiries please email zebras@genedx.com

References

  1. Zhu, S. et al., Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome, Human Genetics 119:284-294, 2006.
  2. Cerutti E. et al, Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. BMC Immunol 8:22, 2007.
  3. Chun, H., et al., Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419: 395-399, 2002.
  4. 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
  5. Su H et al, Genetic Defects of Apoptosis and Primary Immunodeficiency. Immunol Allergy Clin N Am, 28:329, 2008.