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BCKDHB Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

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

ORDERING

Test Code:
4882
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 796.6: Abnormal findings on neonatal screening
  • 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
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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