Pompe Disease (Whole Blood)

Test information: For the diagnosis of Pompe disease, which is a rare genetic disorder occurring due to mutations the acid alpha-glucosidase enzyme gene. Please note this test is for the investigation of Infantile Pompe Disease, and for second line testing of children/adults after a positive dried blood spot test..

Specimen Type(s)

• Blood;

Other Acceptable Specimen Type(s)

N/A

Specimen Container - Adult

• Purple Top BD;

Specimen Container - Paediatric

• Lilac Top Microtainer BD;

Analytes

• N/A;

Part of a test profile?

N/A

Volume (min) of sample to be sent to laboratory

Adult- One FULL EDTA (4ml), Paeds- min 3 ml

Patient Preparation, Sample Handling and Transport

Taken Monday to Thursday, immediately hand delivered to Clinical Chemistry BEFORE MIDDAY as must be posted away by Clinical Chemistry the same day.

Maximum add on time

N/A

Units and Reference Ranges / Interpretation

Please see the report.

UKAS number

9865

UKAS accredited test?

Yes

Comments

"Pompe Disease (Whole Blood)" is for the investigation of Infantile Pompe Disease, and for second line testing of children/adults after a positive dried blood spot test.

If you have any queries about a test or results interpretation please contact us.