LCHAD (LONG-CHAIN 3-HYDROXYLACYL CoA DEHYDROGENASE [ACADL] )

Polymerase Chain Reaction (PCR)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

 

Test Performed At:

 

 

Barnes-Jewish Hospital Molecular Diagnostics Laboratory at Washington University

 

Specimen Required:

 

 

Call Barnes-Jewish Hospital Laboratory Customer Service at (314) 362-1470 for collection instructions.

 

 

 

SUBMIT ONLY 1 OF THE FOLLOWING SPECIMENS:

 

 

 

 

Blood

 

 

Draw blood in a lavender-top (EDTA) tube(s) or a yellow-top (ACD) tube(s), and send 1.0-2.0 mL of EDTA or ACD whole blood at ambient temperature.

 

 

NOTE:

1.

A prior consultation with a medical geneticist is recommended.

 

 

 

2.

Please complete a “Molecular Diagnostic Laboratory Request for DNA Studies-Medical Genetics” and forward it with the specimen. This form is supplied by St. Louis Children’s Hospital or available at http://pathology.wustl.edu/patientcare/moldiagnostic.php

 

 

 

 

Blood Spot Cards

 

 

One 10 mm punch from a spotted dried FTA® Card (catalog # WB 120208, Whatman® Bioscience Ltd., Abington, Cambridge, UK).  Forward card, enclosed in envelope or plastic, at ambient temperature.

 

 

NOTE:

1.

A prior consultation with a medical geneticist is recommended.

 

 

 

2.

Please complete a “Molecular Diagnostic Laboratory Request for DNA Studies-Medical Genetics” and forward it with the specimen. This form is supplied by St. Louis Children’s Hospital or available at http://pathology.wustl.edu/patientcare/moldiagnostic.php

 

 

 

 

Buccal Swabs

 

 

DNA, sufficient for PCR-based assays, may be isolated from cells obtained by buccal swab; this is particularly well tolerated by children. Please call Barnes-Jewish Hospital Laboratory Customer Service for details about the collection system and shipment.

 

 

NOTE:

1.

A prior consultation with a medical geneticist is recommended.

 

 

 

2.

Please complete a “Molecular Diagnostic Laboratory Request for DNA Studies-Medical Geneticsand forward it with the specimen. This form is supplied by St. Louis Children’s Hospital or available at http://pathology.wustl.edu/patientcare/moldiagnostic.php

 

 

 

 

Prenatal Diagnosis

 

 

1 x 106 nucleated cells required (aminocentesis ONLY, not chorionic villi sampling [CVAS]).  Forward promptly at ambient temperature only.

 

 

NOTE:

1.

A prior consultation with a medical geneticist is recommended.

 

 

 

2.

Please complete a “Molecular Diagnostic Laboratory Request for DNA Studies-Medical Genetics” and forward it with the specimen. This form is supplied by St. Louis Children’s Hospital or available at http://pathology.wustl.edu/patientcare/moldiagnostic.php

 

Laboratory Notes:

 

 

DO NOT PROCESS SPECIMENS.

 

Reference Values:

 

 

An interpretive report will be provided.

 

Day(s) Test Set Up:

 

 

Set up on day received

 

Turn Around Time:

 

 

2-3 days

 

CPT Code:

 

 

83907 – prior cell lysis

 

 

83892  - enzyme digestion

 

 

83912 - interpretation and report

 

 

83890 - isolation

 

 

83898 - PCR

 

 

83894 - separation

 

Care Manager Order Name:

 

 

Miscellaneous Referral Test ONCE RTN

 

KIDDOS Order Name:

 

 

Molecular Diagnostics Tracking Test

 

Cerner Order Name:

 

 

LCHAD G1528C

 

Last Updated 06/09