Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

TBX5 Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of the genetic basis of observed cardiac/limb defects in affected individuals
  • Prenatal diagnosis - in families with an affected child and known mutation, or based on fetal ultrasound abnormalities
Lab Method:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 746: Anomalies of pulmonary valve
  • 755.2: Reduction deformities of upper limb
  • 745.4: Ventricular septal defect, Eisenmenger's defect or complex, Gerbode defect, Interventricular septal defect, Left ventricular-right atrial communication, Roger's disease
  • 746.9: Unspecified anomaly of heart, Congenital: anomaly of heart NOS, heart disease NOS
  • 745.5: Ostium secundum type, atrial septal defect, Defect: atrium secundum fossa ovalis, Lutembacher's syndrome, Patent or persistent: foramen ovale ostium secundum
* For price inquiries please email


  1. McDermott, D. et al., Pediatr Res. 58: 981-86, 2005
  2. Heinritz, W. et al., Heart 91: 383-384, 2005
  3. Brassington, A. et al., Am J Hum Genet. 73: 74-85, 2003
  4. Akrami, SM. et al. J Med Genet. 38:E44, 2001
  5. Fan, C. et al. J Med Genet. 40:e29, 2003
  6. Borozdin, W. et al. Hum Mutat. 27:975-976, 2006

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