Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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.

Back To Top