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Test Code D4044
Test Summary

This test analyzes the ABCD1 gene, which is associated with X-linked adrenoleukodystrophy.

Turn-Around-Time (TAT)* 3 - 5 weeks
Acceptable Sample Types
Whole Blood (EDTA)
DNA, Isolated
Dried Blood Spots
Saliva
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
NY Approved No
Self (patient) Price $935.00
Institutional Price $935.00
CPT Codes** 81479 (x2)
Revvity Omics Tax ID: 25-1645804
*TAT starts after the sample and all required sample information is received at Revvity Omics.
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This gene sequencing panel includes both sequencing and deletion/duplication (CNV) analysis for all coding regions of the ABCD1 gene. Analysis is performed utilizing both LR-PCR followed by NGS sequencing and MLPA. All variants are classified according to American College of Genetics and Genomics (ACMG) guidelines.

X-linked adrenoleukodystrophy is a disease that primarily affects the nervous system and adrenal glands. There are three forms of X-linked adrenoleukodystrophy, and the disease occurs mainly in males. The cerebral form of X-linked adrenoleukodystrophy typically has an age of onset in childhood with symptoms of learning difficulty, behavioral problems, vision problems, difficulty swallowing, poor coordination, and impaired adrenal function. Death usually occurs a few years after symptoms begin. The adrenomyeloneuropathy form of X-link adrenoleukodystrophy typically occurs in adulthood with symptoms of progressive stiffness and weakness in the legs, urinary and genital tract disorders, behavioral changes, and adrenocortical insufficiency. In severely affected individuals, the disease can lead to an early death. The Addison disease form of X-linked adrenoleukodystrophy has a variable age of onset, with the symptom of adrenocortical insufficiency being the hallmark feature. The disease gradually progresses, and by middle age, the symptoms of the adrenomyeloneuropathy form are present. In severely affected individuals, the condition can lead to an early death. It is estimated that the incidence of X-linked adrenoleukodystrophy is ~ 1 in 20,000

ABCD1

ABCD1 gene specific long-range PCR was performed to capture the genomic sequences for the real ABCD1 gene from this individual’s genomic DNA to prevent pseudogene from being co-amplified. Next-generation sequencing (NGS) was performed on an Illumina system with 100 base pair paired-end reads. Variants for the ABCD1 gene are evaluated using the Adrenoleukodystrophy Database (www.x-ald.nl) in addition to other mutation databases such as the Human Gene Mutation Database (HGMD) and published literature. This analysis cannot detect variants in regions not analyzed such as promoters, deep intronic regions. Copy number variation (CNV) analysis was assessed using MLPA or by manual reviewing of NGS reads using IGV viewer. This analysis cannot determine the location or orientation of a duplication. This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director.

Whole Blood (EDTA) (Preferred sample type)
Collection Container(s):

EDTA (purple top)

Collection:

Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.

Condition: Store at ambient temperature. Do not refrigerate or freeze.
Shipping: Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
SPECIAL INSTRUCTIONS
Clotted or hemolyzed samples are not accepted.
DNA, Isolated
Collection:

Required DNA Quantity by Test Type*:

  • Next Generation Sequencing (NGS): Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA.
  • Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested).
  • Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.

 

Condition: * Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met.
Shipping: Ship overnight at ambient temperature.
SPECIAL INSTRUCTIONS
  • Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results.
  • Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor before submitting a DNA sample from any non-CLIA-certified laboratory.
  • Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.
Dried Blood Spots
Collection Container(s):

Dried blood spot card

Collection:

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.
Saliva
Collection Container(s):

Oragene™ Saliva Collection Kit or ORAcollect-Dx kit

Collection:

Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer’s instructions. 

Condition: Store at ambient temperature. Do not refrigerate or freeze.
Shipping: Ship overnight at ambient temperature.
SPECIAL INSTRUCTIONS
Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample. Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information.

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