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Congenital Amegakaryocytic Thrombocytopenia (MPL)


Genes

MPL

Conditions

  • Congenital Amegakaryocytic Thrombocytopenia (CAMT)

Clinical Utility

  • Confirmation of a clinical diagnosis.
  • Carrier testing for family members of the affected.
  • Identification of clinically silent cases.
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected.

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TA47

CPT Codes*

81403x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.