Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

X-LINKED ADRENOLEUKODYSTROPHY (ABCD1) SEQUENCING

General Information

Lab Order Codes:

ABCD

Synonyms:

ABCD1 Sequencing

CPT Codes:

81405 – ABCD1, full gene sequence (Molecular Pathology, Level 6)
81479 – Molecular Pathology Unlisted procedure

Test Includes:

ABCD1 gene sequencing

Logistics

Test Indications:

Confirm diagnosis of X-Linked Adrenoleukodystrophy.

Lab Testing Sections:

Anatomic Pathology – Sendouts

Referred to:

Johns Hopkins DNA Diagnostic Laboratory, Baltimore, MD

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

Results are reported in 4 weeks

Special Instructions:

Include a completed Johns Hopkins Form with the specimen or patient to the laboratory.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

6 mL (Minimum: 3 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

Lab Staff: Do Not Centrifuge. Blood specimen should remain in the original collection container. Store and ship at refrigerated temperatures with a cool pack by overnight courier. Forward promptly.

Samples can be stored at ambient temperatures if it will arrive less than 36 hours after collection. Samples are stable at 4 degrees Celsius for longer than 1 week.

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens

Interpretive

Reference Range:

Interpretive report

Critical Values:

N/A

Limitations:

N/A

Methodology:

Bidirectional sequencing

References:

Johns Hopkins Diagnostic Lab October 2013
(410) 955-0483 Fax: (410) 955-0484

Updates:

2/11/2013: CPT update



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