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HMGCL Del/Dup

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

HMGCL

Disorders:

• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
• HMG-CoA Lyase Deficiency

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

List Price:

$500.00

Billing Information:

View Billing Policy

ICD Codes:

• 277.85: Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
• 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

REFERENCES

1. Menao et al., (2009) Hum Mutat 30:E520-9
2. Muroi et al., (2000) Hum Genet 107:320-326
3. Cardoso et al., (2004) Mol Genet Metab 82:334-338
4. Pie et al., (2007) Mol Genet Metab 92:198-209
5. Al-Sayed et al., (2006) BMC Med Genet 7:86

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