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.

BCKDHA Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BCKDHA
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
4881
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:
81405x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 270.3: Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
  • 796.6: Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Henneke et al., (2003) Hum Mutat 22:417
  2. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
  3. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  4. Nellis et al., (2003) Mol Genet Metab 80:189-195
  5. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  6. Quental et al., (2008) Mol Genet Metab 94:148-156

Back To Top