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CASP8 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

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:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
List Price:
$500.00
Billing Information:
View Billing Policy
ICD Codes:
  • 238.7: Other lymphatic and hematopoietic tissues
  • 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

REFERENCES

  1. 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
  2. Zhu, S. et al., Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome, Human Genetics 119:284-294, 2006.
  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. Cerutti E. et al, Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. BMC Immunol 8:22, 2007.
  5. Su H et al, Genetic Defects of Apoptosis and Primary Immunodeficiency. Immunol Allergy Clin N Am, 28:329, 2008.

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