alpha aminoadipic semialdehde

Diagnostic Use

To aid diagnosis for pyridoxine dependent seizures (Antiquitin Deficiency)

Department

Specialist Biochemistry

Delphic Registration Code

WMET

Synonyms

AASA
aminoadipic semialdehde
Antiquitin Deficiency
P6C
piperideine-6-carboxylate

Turnaround Time

3 weeks

Specimen Type

• Urine

Specimen Requirements

Tube/Container Type:

Preferred

• Pottle

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• Pottle

Preferred Sample Volume (ml)

4.0

Additional Specimen Information

Freeze on arrival in the lab. Please note time of collection and time of freezing on request form.

Aliquot Instructions

Sample Type

• Urine

Minimum Volume (ml)

3.0

Transport to Lab

Frozen
If overnight - Frozen

Additional Referral/Aliquot Information

Please note time of collection and time of freezing on request form.

Test Method

Urine Tandem mass spectrometry performed here at Canterbury Health Laboratory

Contact Canterbury Health Laboratories on +64 3 364 0484 or email LabInfo@cdhb.health.nz

Contact Information

Enquiry Form