Newcastle Laboratories

Alpha glucosidase

Clinical Background:

Screening for Pompe disease, alpha-glucosidase deficiency

Infantile Pompe disease presents with severe (cardio) myopathy, hypotonia, respiratory failure, failure to thrive; and if untreated, is fat...

Screening for Pompe disease, alpha-glucosidase deficiency

Infantile Pompe disease presents with severe (cardio) myopathy, hypotonia, respiratory failure, failure to thrive; and if untreated, is fatal in the first year.

Juvenile and adult forms are less severe, presenting with slow progressive muscle weakness and atherosclerosis.

Read More

Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    EDTA whole blood

    OR Blood-spot kit available from specimen reception (Freeman and RVI)

    EDTA whole blood

    OR Blood-spot kit available from specimen reception (Freeman and RVI)

  • Specimen Container Paediatric:

    EDTA whole blood

    OR Blood-spot kit available from specimen reception (Freeman and RVI)

    EDTA whole blood

    OR Blood-spot kit available from specimen reception (Freeman and RVI)

  • Minimum Volume Adult:

    0.5 mL

    2 blood spots

    0.5 mL

    2 blood spots

  • Minimum Volume Paediatric:

    0.5 mL

    2 blood spots

    0.5 mL

    2 blood spots

  • Special Requirement:

    Must be posted the same day

    Prepare blood spot in the lab following protocol in the Genzyme pack

    Must be posted the same day

    Prepare blood spot in the lab following protocol in the Genzyme pack

  • Transport Requirements:

    Post on the same day

    Post on the same day

  • Routine Contact Name:

    Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

    - For external users: TNU-Tr.duty.biochemist@nhs.net

    - For Trust users: DutyBiochemist@nuth.nhs.uk

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Dr Ann Bowron

    Dr Ann Bowron

  • Specialist Telephone:

    0191 282 9685

    0191 282 9685

  • Specialist Email:

    ann.bowron@nuth.nhs.uk

    ann.bowron@nuth.nhs.uk

Availability:

Sample sent to an external laboratory for analysis

Turn Around:

4 weeks

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

View all tests