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Prenatal TBX5 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TBX5
Disorders:
Clinical Utility:
  • Full gene sequencing testing for fetuses with prenatal ultrasound findings suggestive of Holt-Oram Syndrome.
  • Mutation-spcific testing for fetuses with a family history of a known TBX5 mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
2363
Turnaround Time:
2-3 weeks
Preferred Specimen:
20 mL Amniotic Fluid
Alternative Specimen:
20 mg CVS, 2 T25 flasks of cultured amniocytes, 2 T25 flasks of cultured chorionic villi

BILLING

CPT Codes:
81405x1, 81265x1, 88235x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Prenatal Billing Policy
ICD Codes:
  • 655.23: Hereditary disease in family possibly affecting fetus
  • 655.83: Other known or suspected fetal abnormality, not elsewhere classified
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Borozdin, W. et al. Hum Mutat. 27:975-976, 2006
  2. Fan, C. et al. J Med Genet. 40:e29, 2003
  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. Heinritz, W. et al., Heart 91: 383-384, 2005
  6. McDermott, D. et al., Pediatr Res. 58: 981-86, 2005

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