Thrombocytopenia and absent radius syndrome (TAR; MIM 274000) is an autosomal recessive, frequently fatal disorder, caused by mutations in RNA-Binding Motif Protein 8A (RBM8A). The main characteristics of TAR are transient bleeding episodes early in life and upper limb abnormalities that vary from absence of radii to aplasia of the ulna and humerus. In severe cases the hands arises directly from the shoulder and may themselves display abnormal more

Tests Available

By gene: RBM8A
Sanger Sequencing
Test Code: 1349
Deletion / Duplication
Test Code: 1350
NGS/Del Dup Comprehensive
Test Code: 1674

Test Details

Technical Information
Disease Groups: 
Limb Hypoplasia - Reduction Defects
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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