Hypoxanthine guanine phosphoribosyl transferase

Diagnostic Use

Screening for inborn error of metabolism (Lesch Nyhan) or partial enzyme block causing urate lithiosis

Department

Specialist Biochemistry

Delphic Registration Code

SENB

Laboratory Handling

Laboratory

EDTA whole blood needs to be spotted onto 2 Guthrie cards within 72 hours of collection.

Turnaround Time

6 weeks

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2.0

Additional Specimen Information

EDTA whole blood needs to be spotted onto 2 Guthrie cards within 72 hours of collection.

Please ensure blood will arrive at CHL, Christchurch, Monday to Friday 8am-5pm

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Test Method

to be entered

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

Referred to St Thomas London

Contact Information

Enquiry Form