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Genetics Lab

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Alpha Amino Adipic Semialdehyde

Pyridoxine dependent seizures (PDS) is a genetic disorder characterized by seizures presenting in neonates or infants up to 3 years of age, which respond to pharmacological dose of pyridoxine (vitamin B6). Alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency in lysine degradation pathway was identified as an underlying defect. PDS is characterized by accumulation of α-aminoadipic semialdehyde (α-AASA) and piperideine-6-carboxylate (P6C) in body fluids (plasma, urine, cerebrospinal fluid) and can be used as biochemical markers of the disease. Recently, folinic acid-responsive seizures, a form of seizures that respond to treatment with folinic acid are found due to alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency and mutations in the ALDH7A1 gene. This method simultaneously determines α-AASA and P6C in plasma and serum for diagnosis of PDS and folinic acid-responsive seizures (FRS).

Test Name: Alpha Amino Adipic Semialdehyde
Test Code:
AASA
Test Description:
Liquid chromatography – mass spectrometry to measure Alpha-aminoadipic Semialdehyde and Piperideine-6-carboxylate in Human Plasma
Synonyms:
Indication:
This test is used to diagnose suspected pyridoxine-dependent Seizures (PDS)
Related Tests:
Clinical Links:
Availability:
Mon-Fri
Turnaround Time:
5-7 days
Methodology:
UPLC/MS/MS
Reference Range:
Requisition:
Consent Form:
Sample Requirements: Type
0.5 mL of serum or heparinized plasma, Frozen, (0.25mL minimum )

Processing
Plasma must be frozen within 1 hour of collection. Spin blood, freeze plasma in plastic aliquot container at -70 C. Ship frozen on dry ice.

Shipping
Ship on dry-ice.
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Cost:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions