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ACADSB (M389V) Mutation Analysis

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ACADSB
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
529
Turnaround Time:
2-3 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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Alfardan et al., (2010) Mol Genet Metab 100:333-338
  2. Korman, (2006) Mol Genet Metab 89:289-299
  3. Sass et al., (2008) Mol Genet Metab 93:30-35
  4. Matern et al., (2003) Pediatrics 112:74-78
  5. Korman et al., (2005) Clin Chem 51:610-617
  6. Andresen et al., (2000) Am J Hum Genet 67:1095-1103
  7. Gibson et al., (2000) Pediatr Res 47:830-3

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