Disorders

Thrombocytopenia Absent Radius Syndrome

Synonym(s): Radial Aplasia Amegakaryocytic Thrombocytopenia, Radial Aplasia Thrombocytopenia Syndrome, TAR Syndrome, Tetraphocomelia-Thrombocytopenia Syndrome, Thrombocytopenia Absent Radii Syndrome, Thrombocytopenia-Absent Radius Syndrome

GeneReview OMIM

Gene	Locus	Protein
RBM8A	1q21.1

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Connective Tissue Gene Tests - Allentown, PA, USA
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain	• Targeted mutation analysis

^* 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.