Alpha Aminoadipic Semialdehyde (CSF)

Test Code

10377

CPT Codes
82542<br>Restricted Client Code

Preferred Specimen

1 mL frozen CSF collected in a sterile screw-cap vial

Minimum Volume

0.5 mL

Instructions

Collect entire sample into a single sterile tube.
Storage Instructions: Freeze as soon as possible after collection

Transport Temperature

Frozen

Specimen Stability

Room temperature: Not stable
Refrigerated: 24 hours
Frozen -20° C: 72 hours
Frozen -80° C: Indefinitely

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Received thawed • Bloody CSF

Methodology
LC/MS/MS

FDA Status
This test was developed and its performance characteristics determined by Medical Neurogenetics, LCC. It has not been cleared or approved by the U.S. FDA.

Setup Schedule

Set up: Varies; Report available: 10-14 days

Reference Range

<0.1 umol/L

Clinical Significance

CSF Alpha aminoadipic semialdehyde is useful for diagnosing pyridoxine-dependent seizures (PDS) and folinic acid-responsive seizures (FRS). This testing 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). CLINICAL 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). Alpha-aminoadipic semialdehyde dehydrogenase (antiquin) deficiency is the underlying defect. Piperideine-6-Carboxylate (P6C) is the cyclic isomer of alpha-aminoadipic semialdehyde (AASA) and the equilibrium between P6C and Alpha aminoadipic semialdehyde is pH dependent. Folinic responsive seizures and PDS are allelic, and caused by mutations in the ALDH7A1 gene. Biochemical testing should be done prior to gene sequencing, and can be done regardless of pyridoxine therapy.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.