Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

IVD Tier 1

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
IVD
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Mutation testing following a positive newborn screen for IVA to rule out the common c.932 C→T mutation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
3192
Turnaround Time:
2-3 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81400x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 270.3: Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
  • 276.2: Acidosis Acidosis
  • 796.6: Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Ensenauer R. et al., (2004) Am J Hum Genet 75 :1136-1142
  2. Vockley J. et al., (2000) Am J Hum Genet 66 :356-367
  3. Lin, WD et al., (2007) Mol Genet Metab 90 :134-139
  4. Lee, YW et al., (2007) Mol Genet Metab 92 :71-77
  5. Vockley, J and Ensenauer R. (2006) Am J Med Genet C Semin Med Genet 142:95-103

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