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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Pyridoxine-Dependent Seizures tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Analyte Analysis Pyridoxine-Dependent Seizures Panel - Plasma
Test Code: 4811

The Pyridoxine-Dependent Seizures Panel can also be performed on Cerebrospinal Fluid (CSF) (#4812).
Sequence Analysis ALDH7A1 Sequence Analysis
Test Code: 6950
ALDH7A1 Sequence Analysis
Test Code: 6951

This test can only be performed if there is a previously identified familial mutation.
ALDH7A1 Sequence Analysis
Test Code: 6952

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


Pyridoxine-Dependent Seizures Panel - Plasma
Test Information: Elevated quantities of alpha-aminoadipic semialdehyde (AASA) and its cyclic Shiff base, piperideine-6-carboxylate (P6C) are diagnostic for Pyridoxine-Dependent Seizures. Pipecolic acid may also be moderately elevated. This test reports the levels of P6C and pipecolic acid.
Test Details
Test Code: 4811
Test Includes: This test provides quantitative analysis of Piperideine-6-Carboxylate and Pipecolic Acid.

Special Notes: Carrier Testing and Prenatal Analysis are not available by Analyte Analysis.

The Pyridoxine-Dependent Seizures Panel can also be performed on Cerebrospinal Fluid (CSF) (#4812). Please see detailed requirements under this test code.

Piperideine-6-Carboxylate (P6C) is the cyclic isomer of alpha-aminoadipic semialdehyde (AASA) and the equilibrium between P6C and AASA is pH dependent. Under our assay conditions, P6C is the predominant form.

ALDH7A1 Sequence Analysis (#6950) for Pyridoxine-Dependent Seizures is also available. Please see detailed requirements under this test code.
Technical Information
Methodology: Tandem MS
Protein Name: Alpha-aminoadipic semialdehyde dehydrogenase, Piperideine-6-Carboxylate
Test Type: Analyte Analysis
References Values or Ranges: Ranges provided on the report
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Plasma
Requirements: Draw blood in a Heparin (green-top) tube(s) and separate as soon as possible. Send 1-2 cc of plasma. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days.
Shipping Conditions: Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.

Turn Around Time: 6 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82543 x 2


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