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Test Code B0023
Test Summary

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

Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Dried Blood Spots
Whole Blood (EDTA)
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

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

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

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

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.

Dried Blood Spots
Collection Container(s):

Dried blood spot card


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

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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)
Collection Container(s):

EDTA (purple top)


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.
Clotted or hemolyzed samples are not accepted.

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