Specimen Collection

Dried blood spot (newborn Guthrie screening card), 3 Spots required

Alternatively, 4 mL EDTA Whole Blood, must arrive at LabPlus within 24hrs of collection and between Mon 08:00 to Fri 12:00 (Midday).

Reference Intervals

The reference interval will be provided with the result.

Turnaround Time: Between 6 weeks and 8 weeks

Unless Lab notification and sent urgently.

Assay Method

Referred to SA Pathology Women's and Children's Hospital, Adelaide.

Diagnostic Use and Interpretation

Used for diagnosis of Pompe disease. Testing strategy for Infantile Onset Pompe Disease: 1. Alpha glucosidase activity: one spot on Guthrie Card 2. Cross Reactive Immunological Material (CRIM) status: Skin biopsy for fibroblast culture sent urgently to Adelaide 3. GAA gene sequencing: 3-5 mL EDTA blood for DNA extraction sent urgently to Adelaide Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) is a lysosomal storage disorder with a varied phenotype. The severe form is characterised by a severe cardiac and skeletal myopathy in infants (Infantile Pompe disease). If this is suspected, diagnosis should be made urgently including assessment of CRIM status. This is particularly important as treatment is available for this condition. The adult form (late onset Pompe Disease) is notable for slowly progressive myopathy, affecting proximal and spinal muscles as well as the diaphragm. Cardiac disease in these patients is usually not present. CKs in both types may be normal to mildly elevated. An intermediate phenotype also exists. Muscle biopsy reveals an accumulation of glycogen.

Download: Infantile Pompe Disease - Infantile Pompe Disease.pdf

Contact Information

For further information contact laboratory: ext 22016 or via Lablink.

or, Dr Callum Wilson, Metabolic Physician: Ph 021 555 392

or, Dr Emma Glamuzina, Metabolic Physician: Ph 021 403 617

Specimen Transport Instructions for Referring Laboratories

Guthrie card blood spot: From tube: Mix well and place 100 uL on each Guthrie card spot. 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. Please air dry at least 2hrs before sending. Place in paper envelope NOT plastic sample bag. Transport to Biochemical Genetics, LabPlus at either Room Temperature, Chilled or Frozen. EDTA whole blood must arrive at LabPlus within 24hrs of collection and between 08:00 Monday to 12:00 (Noon) Friday*. Mark parcel as urgent . * Samples received after 12:00 Friday may not be handled in time and be deemed unsuitable.

Last updated at 12:14:07 26/09/2024