Pipecolic acid urine
Clinical Background:
For the diagnosis of peroxisomal disorders and pyridoxine-dependent epilepsy.
Abnormal results are confirmed with urine α-amino adipic semialdehyde and/or CSF pipecolic acid
For the diagnosis of peroxisomal disorders and pyridoxine-dependent epilepsy.
Abnormal results are confirmed with urine α-amino adipic semialdehyde and/or CSF pipecolic acid
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Plain universal container
Plain universal container
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Specimen Container Paediatric:
Plain universal container
Plain universal container
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Minimum Volume Adult:
200 µL
200 µL
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Minimum Volume Paediatric:
200 µL
200 µL
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Special Requirement:
Unsuitable if patient is on pyridoxine
Unsuitable if patient is on pyridoxine
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Sample Stability:
Freeze sample
Freeze sample
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: