GALT Gene Sequencing & Del/Dup

Forms and Documents

Test Details

GALT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

349E
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81406x1, 81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 271.1 Galactosemia, Galactose-1-phosphate uridyl transferase deficiency, Galactosuria
* For price inquiries please email zebras@genedx.com

References

  1. Elsas, L and Lai, K (1998) Genet Med 1 :40-8
  2. Elsas, L. (Updated [September 27, 2007]). Galactosemia
  3. Kozak et al., (1999) Hum Mutat 15 :206
  4. Barbouth et al., (2006) Genet Med 8:176-182
  5. Bosch et al., (2005) Hum Mutat 25 :502