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Test Code LAB3820 ABCD1 Single Gene Analysis

Additional Codes


Clinical System Name

ABCD1 Single Gene Analysis



X-Linked Adrenoleukodystrophy

X-Linked ALD


This test includes sequencing and CNV analysis for the ABCD1 gene via NGS.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL (1.0 mL for small infants)


Alternative Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml


Alternative Specimen (e.g. saliva or buccal): Alternate Specimen Collection Kits for Genetic Testing


Specimens & Shipping

Processing Instructions

Reject due to: Frozen samples are unacceptable. Hemolysis is unacceptable.

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage Location: Do not spin. Refrigerate whole blood in CPA refrigerator, Send Outs rack.


Off-site Collection: Do not spin. Send refrigerated.


Specimen Type Temperature Time
Whole Blood Room temp

3 d

  Refrigerated 7 d


Extracted DNA Room temp 3-4 d
  Refrigerated 1 y
  Frozen Indefinitely



STAT Performed TAT
N Varies 3 - 5 w

Performing Laboratory


3800 South Business Park Avenue

Marshfield, WI 54449


Phone Number: (715) 387-0484


Department: Send Outs

Phone Number: (206) 987-2563

Reference Range

Interpretive report provided.



NextGen Sequencing

We use a combination of Next Generation Sequencing (NGS) and Sanger sequencing technologies to cover the full coding regions of the listed genes plus ~10 bases of non-coding DNA flanking each exon.  As required, genomic DNA is extracted from the patient specimen.  For NGS, patient DNA corresponding to these regions is captured using an optimized set of DNA hybridization probes.  Captured DNA is sequenced using Illumina’s Reversible Dye Terminator (RDT) platform (Illumina, San Diego, CA, USA).  Regions with insufficient coverage by NGS are covered by Sanger sequencing.

For Sanger sequencing, Polymerase Chain Reaction (PCR) is used to amplify targeted regions.  After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit.  PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer.  In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Patient DNA sequence is aligned to the genomic reference sequence for the indicated gene region(s). All differences from the reference sequences (sequence variants) are assigned to one of five interpretation categories, listed below, per ACMG Guidelines (Richards et al. 2015).

(1) Pathogenic Variants
(2) Likely Pathogenic Variants
(3) Variants of Uncertain Significance
(4) Likely Benign Variants
(5) Benign Variants

Human Genome Variation Society (HGVS) recommendations are used to describe sequence variants (  Rare variants and undocumented variants are nearly always classified as likely benign if there is no indication that they alter protein sequence or disrupt splicing.

Deletion and Duplication Testing via NGS

Copy number variants (CNVs) such as deletions and duplications are detected from next generation sequencing data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution, and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as PCR, aCGH or MLPA before they are reported.

Special Instructions


Send Out Instructions

Reference Test Name:

X-Linked Adrenoleukodystrophy via the ABCD1 Gene

Reference Lab Test Code:


Instructions: Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted.