Metabolic profile, Urine

Diagnostic Use

To aid detection of inborn errors of metabolism

Department

Specialist Biochemistry

Delphic Registration Code

WMET

Synonyms

2-carboxypropyl)cyst.Carnitine
4-hydroxyglutamate
AASA
Alkaptonuria
Cerebrotendinous Xanthomatosis
Cholestanepentol Glucuronide
Creatine Ur
Glycerate
Glycolate
Guanidinoacetate
Homogentisic acid
Hypoxanthine
N-Carbamoyl beta-alanine
N-Carbamoyl beta-aminoisobutyr
Orotic acid
P6C
s(2-carboxypropyl) cysteine
S-sulfocystine
SCPC Carnitine
Succinyl adenosine
Sulfocystine
Ur TMS screen
Ureidoisobutyrate
Urine Tandem Mass Spectrometry
Xanthine

Test Code

4556

Specimen Type

• Urine

Specimen Requirements

Tube/Container Type:

Preferred

• Pottle

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• Pottle

Preferred Sample Volume (ml)

6.0

Pre-testing Requirements

Urine random preferably send to lab on ice and freeze on arrival in the lab. Please note time of collection and time of freezing on request form. PLEASE ALL THE URINE SEND TO SPECIALIST LAB DO NOT ALIQUOT A URINE CREATININE - THIS WILL BE DONE IN SPECIALIST CHEMISTRY

Additional Specimen Information

Urine random preferably send to lab on ice and 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)

6.0

Transport to Lab

Frozen
If overnight - Frozen

Additional Referral/Aliquot Information

Urine random preferably send to lab on ice and freeze on arrival in the lab. Please note time of collection and time of freezing on request form

Test Method

Aminoacids, Creatine, Guanidinoacetate, P6C, pyroglutamate, xanthine, succinyladenosine, mevalonate, glycolate, glycerate, 4-hydroxy glutamate - Urine Tandem Mass Spectrometry Screen for Inborn Errors of Metabolism

Organic acids - GCMS

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

Referred to Organic acids sent to Labplus
A brief clinical history is required.

For known cystinurics see Cystine quantitation.

PLASMA preferred for Methylmalonic acid testing for vitamin B12 deficiency

Contact Information

Enquiry Form