Congenital Amegakaryocytic Thrombocytopenia (CAMT)

Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare disorder characterized by isolated thrombocytopenia and megakaryocytopenia in infancy with no associated physical abnormalities. However, the disorder can evolve into aplastic anemia and leukemia later in life. Disclaimer: This MPL test is intended for diagnosis of congenital amegakaryocytic thrombocytopenia. It also can be used for certain inherited forms of thrombocytosis. It is not suitable for patients with myeloproliferative disease or other acquired adult disorders.

Tests Available

Forms and Documents

Test Details

MPL
  • 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
  • Capillary Sequencing

Ordering

104
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81402x1, 81403x1
No
Yes
* 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