Alpha Aminoadipic Semialdehyde (Urine)

TEST: 620046
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CPT: 82542
Updated on 12/5/2024
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Special Instructions

This assay currently is not available in New York state.

This assay is not currently available in New York state.

This assay currently is not available in New York state.

Expected Turnaround Time

10 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Urine, frozen

Volume

1.0 mL

Minimum Volume

0.5 mL

Container

Sterile cup

Storage Instructions

Freeze as soon as possible after collection; ship within 24 hours.

Stability Requirements

TemperaturePeriod
Room temperatureUnstable (stability provided by manufacturer or literature reference)
RefrigeratedUnstable (stability provided by manufacturer or literature reference)
FrozenIndefinite (stability provided by manufacturer or literature reference)

Causes for Rejection

Thawed sample

Test Details

Use

Urine Alpha aminoadipic semialdehyde (AASA) is useful for diagnosing pyridoxine-dependent seizures (PDS) and folinic acid-responsive seizures (FRS). Elevation of AASA can also occur in molybdenum cofactor deficiency. Urine AASA may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). Pyridoxine dependent seizures is a genetic disorder characterized by seizures in neonates or infants up to 3 years of age, which in general, respond to a pharmacologic dose of pyridoxine (vitamin B6). AASA dehyrogenase (antiquin) deficiency is the underlying defect. Piperideine-6-Carboxylate (P6C) is the cyclic isomer of AASA and the equilibrium between P6C and AASA is PH dependent. P6P reacts with pyridoxal 5'-phosphate and leads to deficiency of this cofactor. Folinic responsive seizures and PDS are allelic, and caused mutations in the ALDH7A1 gene. Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy.

Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)

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