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GALT Gene Sequencing & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GALT
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing, Exon Array CGH

ORDERING

Test Code:
349E
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1, 88271x10, 88291x1
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
* 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

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