Days Set Up
 
Analytic Time

10 - 14 days

MiChart Code
Alpha Aminoadipic Semialdehyde (CSF)
Soft Order Code
AASA

Test Updated:

Synonyms
 

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Test Overview

Test Methodology

LC/MS/MS

Test Usage

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). 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.

Reference Range
 

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Normal Volume
4.5 mL CSF
Minimum Volume
 

Billing Information

CPT Code
82017
Pro Fee Code
 
Insurance Auth Info
 
LOINC
 

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Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.