Dihydrolipoamide Dehydrogenase (DLD)

CPT: 81479
Print Share

Test Details

Synonyms

  • Lipoamide Dehydrogenase (LAD)

Use

Detect dihydrolipoamide dehydrogenase deficiency (DLD)

Methodology

DNA analysis

Additional Information

Dihydrolipoamide dehydrogenase deficiency (DLD), also known as lipoamide dehydrogenase deficiency (LAD), is an autosomal-recessive disorder that occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 96. DLD presents as persistent lactic acidosis with recurrent episodes of vomiting and abdominal pain. There is progressive neurological impairment, hepatomegaly, cortical blindness, stupor, and coma. Mortality is high. Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out whether they are carriers and at risk of having a baby with DLD. DLD mutation analysis tests for two mutations for a 95% carrier detection rate in the Ashkenazi Jewish population.

Specimen Requirements

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.), or LabCorp buccal swab kit (Buccal swab collection kit contains instructions for use of a buccal swab.).

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
450080 Dihydrolipoamide Dehydrogenase 451378 Dihydrolipoamide Dehydrogenase 51969-4
450080 Dihydrolipoamide Dehydrogenase 511946 PDF Pending
450080 Dihydrolipoamide Dehydrogenase 511005 Jewish Heritage Putaway N/A

For Providers

Please login to order a test.

 

© 2017  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf