Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

Due to inclement weather, GeneDx will be closed for business, and we may be unable to accept specimens on Thursday, March 5, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

BCKDHA Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

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

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