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X-Linked Adrenoleukodystrophy - C26:0 Lysophosphatidylcholine

Omics test Model
Test Code B0023
Test Summary

This biochemical test analyzes the level of C26:0-lysophosphatidylcholine

Turn Around Time 3 days
Acceptable Sample Types Dried Blood Spots , Whole Blood (EDTA)
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
Self (patient) Price $108.90
Institutional Price $108.90
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**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 testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.

Test Description

Elevated levels of C26:0-lysophosphatidylcholine is associated with X-linked adrenoleukodystrophy.

Indications for Testing

  • Individuals with a clinical suspicion of X-linked adrenoleukodystrophy.
  • Individuals with a family history of X-linked adrenoleukodystrophy.

Condition Description

X-linked adrenoleukodystrophy is a disease that primarily affects the nervous system and adrenal glands. There are 3 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 has an age of onset in adulthood with symptoms of progressive stiffness and weakness in the legs, urinary and genital tract disorders, behavioral changes, and adrenocortical insufficiency. In severly 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 adrenocortial insufficiency being the hallmark feature. The disease gradually progresses, and by middle age the symptoms of the adrenomyeloneuropathy form are present. In severly affected individuals, the disease can lead to an early death. It is estimated that the incidence of X-linked adrenoleukodystrophy is ~ 1 in 20,000

Test Methods and Limitations

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Detailed Sample Requirements

Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card

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
Sample 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.
Whole Blood (EDTA)
Test Details Page
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.
Sample Condition Store at ambient temperature. Do not refrigerate or freeze.
Shipping Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
Special Sample Instructions Clotted or hemolyzed samples are not accepted.