Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

TBX5 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TBX5
Disorders:
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

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
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 zebras@genedx.com

REFERENCES

  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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