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 structure.read more

Tests Available

By gene: RBM8A
Sanger Sequencing
$675
Test Code: 1349
Deletion / Duplication
$680
Test Code: 1350
Sanger/Del Dup Comprehensive
$1,255
Test Code: 1674

Test Details

Technical Information
Genes: 
RBM8A
Disease Groups: 
Limb Hypoplasia - Reduction Defects
MIM: 
274000
Billing
Price: 
$675
CPT Codes: 
81479 x 1
Ordering
SKU:
1349
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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

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

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