Pompe testing (A-Glucosidase, Acid maltase deficiency, Alpha-1,4-Glucosidase, Alpha-Glucosidase, GAA enzyme activity)

Department

Specialist Biochemistry

Delphic Registration Code

SENB

Laboratory Handling

Phlebotomy

Guthrie card blood spot

Registration

Guthrie card blood spot , Dry room temperature. Place in paper envelop NOT plastic sample bag

Separating

send to Specialist Biochemistry

Synonyms

A-Glucosidase
Acid maltase deficiency
Alpha-1,4-Glucosidase
Alpha-Glucosidase
GAA enzyme activity

Turnaround Time

8 weeks

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Additional Specimen Information

Specimen Collection Protocols For EDTA blood keep sample cool. Mix well and place 100 uL on each Guthrie card spot. Dry room temperature. Place in paper envelop NOT plastic sample bag

Collecting sample directly onto Guthrie: Ensure each circle is COMPLETELY filled to the outside before starting to fill the next circle. It is better to collect 2 or 3 FULL spots rather than to spot each circle incompletely.

State clearly on form: for enzymatic diagnosis of Pompe Disease (attention Chris Leaver)

Aliquot Instructions

Additional Referral/Aliquot Information

Send to lab ambient in paper envelop NOT plastic sample bag

Test Method

to be entered

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

Referred to SA Pathology Women's and Children's Hospital, Adelaide
Urine for tetrasaccharide testing can also be sent

See
http://www.sapathology.sa.gov.au/wps/wcm/connect/SA+Pathology+Internet+Content+New/Content/Clinicians/Pathology+Collection+Guide/

Contact Information

Enquiry Form