In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and will resume our normal work schedule on Saturday, November 29, 2014. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
FORMS AND DOCUMENTS
- Clinical Utility:
- 1. Confirmation of a clinical diagnosis.
- 2. Carrier testing for family members of the affected.
- 3. Identification of clinically silent cases.
- 4. Confirmation that a potential hematopoietic stem cell transplant donor is not affected
- Lab Method:
- Exon Array CGH
- Test Code:
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 84311x1, 88271x10, 88291x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 655.2: Hereditary disease in family possibly affecting fetus [0,1,3]
- 284.8: Other specified aplastic anemias
- 208: Acute [0-2] Acute leukemia NOS, Blast cell leukemia, Stem cell leukemia
- 287.3: Primary thrombocytopenia
- 288: Neutropenia Decreased, Absolute Neutrophil Count (ANC); Use additional code for any associated: fever (780.61), mucositis (478.11, 528.00-528.09, 538, 616.81) (776.7)
- 287.5: Thrombocytopenia, unspecified
- Ballmaier M. et al, 2001, C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia, Blood 97: 139-146
- Van den Oudenrijn S. et al, 2000, Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia, , Brit. J. Haemat. 110: 441-448
- Ihara, K et al., 1999, Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia, Proc. Nat. Acad. Sci. 96: 3132-3136
- Tonelli et al., Compound heterozygosity for two different amino acid substitutions in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia, 2000, Hum Genet 107:225-233