Pompe Testing (A-Glucosidase, Acid Maltase Deficiency, Alpha-1, 4-Glucosidase, Alpha-Glucosidase, GAA Enzyme Activity), Whole Blood

Department

Specialist Biochemistry

Delphic Registration Code

SENB

Laboratory Handling

Phlebotomy

Guthrie card blood spot.

Registration

Guthrie card blood spot, dry at room temperature. Place in a paper envelope NOT a 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

6 weeks

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Additional Specimen Information

Collecting sample directly onto Guthrie card: 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 Paediatrics)

Aliquot Instructions

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