Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

MAT1A Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MAT1A
Disorders:
Clinical Utility:
  • 1. Confirmation of biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 796.6: Abnormal findings on neonatal screening
  • 277.8: Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Chou, J. (2000) Pharmacol Ther 85:1-9
  2. Chien et al., (2005) Early Hum Dev 81:529-533
  3. Couce et al., (2008) J Inherit Metab Dis Online
  4. Chamberlin et al., (2000) Am J Hum Genet 66:347-355Chamberlin et al., (2000) Am J Hum Genet 66:347-355
  5. Chamberlin et al., (1996) J Clin Invest 98:1021-1027
  6. Ubagai et al., (1995) J Clin Invest 96:1943-1947
  7. Chamberlin et al., (1997) Am J Hum Genet 60:540-546

Back To Top