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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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