Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

MPL Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MPL
Disorders:
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:
Capillary Sequencing

ORDERING

Test Code:
104
Turnaround Time:
7-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81402x1, 81403x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 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
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Ballmaier M. et al, 2001, C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia, Blood 97: 139-146
  2. 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
  3. Ihara, K et al., 1999, Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia, Proc. Nat. Acad. Sci. 96: 3132-3136
  4. 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

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