Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

BTD Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BTD
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
294
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81404x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 277.8: Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Hymes, et al, (2001) Hum Mutat 18:375-381
  2. Wolf, et al, (2002) Molec Genet Metab 77:108-111
  3. Milankovics, et al, (2007) Molec Genet Metab 90:345-348
  4. Wolf, et al (2005) Hum Mutat 25:413
  5. Norrgard, et al (1999) Pediatr Res 46:20-27
  6. Pomponio, et al, (1997) Hum Genet 99:506-12
  7. Dobrowolski, et al, (2003) Molec Genet Metab 78:100-107

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