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GALK1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GALK1
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
499
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 796.6: Abnormal findings on neonatal screening
  • 271.1: Galactosemia, Galactose-1-phosphate uridyl transferase deficiency, Galactosuria
  • 366.44: Cataract associated with other syndromes, Code first underlying condition, as: craniofacial dysostosis (756.0) galactosemia (271.1)
* 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.

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