Newcastle Laboratories

Alpha galactosidase

Clinical Background:

Screening for Fabry disease, alpha-galactosidase deficiency

An x-linked disorder presenting with acute pain, skin rash, fever.

Adults may have cardiomyopathy, renal failure, stroke, hearing loss.

F...

Screening for Fabry disease, alpha-galactosidase deficiency

An x-linked disorder presenting with acute pain, skin rash, fever.

Adults may have cardiomyopathy, renal failure, stroke, hearing loss.

Female carriers may have some clinical features of Fabry disease.

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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

  • Transport Requirements:

    Post on the same day

    Post on the same day

  • Reference Ranges:

    6.3 - 47 pmol/punch/h 

    6.3 - 47 pmol/punch/h 

  • Other Info:

    Enzyme analysis is unreliable in females, as carriers are difficult to distinguish from unaffected subjects. If Fabry is suspected, gene mutation analysis is recommended. 

    Enzyme analysis is unreliable in females, as carriers are difficult to distinguish from unaffected subjects. If Fabry is suspected, gene mutation analysis is recommended. 

  • 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

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