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Alpha Aminoadipic Semialdehyde (CSF)

CPT: 84275
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Specimen Requirements


Specimen

Cerebrospinal Fluid (CSF)

Volume

1.0 mL

Minimum Volume

0.5 mL

Container

Sterile screw capped vial

Collection

Collect entire sample into a single sterile tube

Storage Instructions

Freeze as soon as possible after collection

Stability Requirements

Room Temperature: Not stable; Refrigerated: 24 hours; Frozen: 72 hours @ -20C, Indefinitely @ -80C; Freeze/Thaw: None

Causes for Rejection

Bloody CSF; Received thawed

Test Details


Use

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.

Methodology

LC/MS/MS

Recommended MNG Kits

CSF Collection Tubes (set of 5 tubes per kit)

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620037 Alpha Aminoadipic Semialdehyde 79280-4 620056 AASACF Results 79280-4
620037 Alpha Aminoadipic Semialdehyde 79280-4 620057 AASACF Interpretation N/A
620037 Alpha Aminoadipic Semialdehyde 79280-4 630823 PDF 80563-0