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IVD Del/Dup

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

IVD

Disorders:

• Isovaleric Acidemia

Clinical Utility:

• Confirmation of biochemical diagnosis
• Carrier testing
• 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

Billing Information:

View Billing Policy

ICD Codes:

• 796.6: Abnormal findings on neonatal screening
• 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

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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