91´óÉñ

TARP Syndrome

Gene: RBM10

Protein: RNA-binding protein 10

Clinical Characteristics

  • Talipes equinovarus
  • Atrial septal defect
  • Robin sequence
  • Persistence of the left superior vena cava
  • Low-set ears
  • Cryptorchidism
  • Pulmonary hypoplasia
  • Prenatal or postnatal lethality

Inheritance pattern: X-linked

What Can Be Learned From This Test

Testing is performed by sequencing the entire RBM10 gene and surrounding regions. This will detect point mutations, small deletions and small insertions. It will not detect a whole gene deletion or duplication.

RBM10 is the only gene known to be associated with TARP syndrome. A negative test does not rule out a diagnosis of TARP syndrome since a mutation could be in a region not sequenced or in another gene.

Sample Requirements

Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).

Turnaround time: 10-14 business days

CPT Codes and Cost

Full Gene Sequencing

  • Code: 81479
  • Cost: $1,500

Known Variant Testing

  • Code: 81479
  • Cost: $225

Additional Information