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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:
84311x1, 88271x10, 88291x1
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
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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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