BCKDHA Gene Sequencing

Forms and Documents

Test Details

BCKDHA
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing Reflex to Exon Array

Ordering

4881
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81405x1
No
Yes
  • 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. 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