Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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:
81479x1
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

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