In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
GALK1 Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of biochemical diagnosis
- Carrier testing
- Lab Method:
- Capillary Sequencing Reflex to Exon Array
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- 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)
- Hennermann et al., (2011) J Inherit Metab Dis Feb 3. [Epub ahead of print].
- Bosch et al., (2002) J Inherit Metab Dis 25:629-634.
- Hunter et al., (2002) Pediatr Res 51:602-6.
- Hunter et al., (2001) Hum Mutat 17:77-8.
- Kolosha et al., (2000) Hum Mutat 15:447-453.
- Asada et al., (1999) J Hum Genet 44:377-382.
- Park et al., (2007) Mol Genet Metab 91:234-238.
- Park et al., (2009) BMC Med Genet 10:29.