Disorders


 

Amegakaryocytic Thrombocytopenia, Congenital


Synonym(s): CAMT

 

OMIM

GeneLocusProtein
MPL1p34Thrombopoietin receptor

Laboratory Test Method Prenatal Carrier *
BloodCenter of Wisconsin, Platelet and Neutrophil Immunology Laboratory - Milwaukee, WI, USA• Sequence analysis of the entire coding region
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Sequence analysis of the entire coding region

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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