In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at email@example.com.
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
- Alternative Specimen:
- Oral Rinse (30-40 mL), Dried Blood Spots
- 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.