GALK1 Gene Sequencing

Forms and Documents

Test Details

GALK1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing Reflex to Exon Array

Ordering

499
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 366.44 Cataract associated with other syndromes, Code first underlying condition, as: craniofacial dysostosis (756.0) galactosemia (271.1)
  • 271.1 Galactosemia, Galactose-1-phosphate uridyl transferase deficiency, Galactosuria
* For price inquiries please email zebras@genedx.com

References

  1. Hennermann et al., (2011) J Inherit Metab Dis Feb 3. [Epub ahead of print].
  2. Bosch et al., (2002) J Inherit Metab Dis 25:629-634.
  3. Hunter et al., (2002) Pediatr Res 51:602-6.
  4. Hunter et al., (2001) Hum Mutat 17:77-8.
  5. Kolosha et al., (2000) Hum Mutat 15:447-453.
  6. Asada et al., (1999) J Hum Genet 44:377-382.
  7. Park et al., (2007) Mol Genet Metab 91:234-238.
  8. Park et al., (2009) BMC Med Genet 10:29.