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MAT1A Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MAT1A
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
473
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
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. Couce et al., (2008) J Inherit Metab Dis Online
  2. Chien et al., (2005) Early Hum Dev 81:529-533
  3. Chou, J. (2000) Pharmacol Ther 85:1-9
  4. Ubagai et al., (1995) J Clin Invest 96:1943-1947
  5. Chamberlin et al., (1996) J Clin Invest 98:1021-1027
  6. Chamberlin et al., (1997) Am J Hum Genet 60:540-546
  7. Chamberlin et al., (2000) Am J Hum Genet 66:347-355Chamberlin et al., (2000) Am J Hum Genet 66:347-355

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