Newcastle Laboratories

Lysosomal enzymes

Clinical Background:

A Lysosomal storage disease should be suspected in infants or children with growth failure, developmental regression, corneal or lens clouding, hepato-and/or splenomegaly, coarsening facial feature...

A Lysosomal storage disease should be suspected in infants or children with growth failure, developmental regression, corneal or lens clouding, hepato-and/or splenomegaly, coarsening facial features and skeletal abnormalities.

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    EDTA whole blood

    EDTA whole blood

  • Specimen Container Paediatric:

    EDTA whole blood

    EDTA whole blood

  • Minimum Volume Adult:

    5 -10 mL blood

    5 -10 mL blood

  • Minimum Volume Paediatric:

    5 -10 mL blood

    5 -10 mL blood

  • Special Requirement:

    Must reach RVI lab for processing within 24 hours (and before 2pm on Friday)
    Please notify laboratory first (ext: 20334)

    Must reach RVI lab for processing within 24 hours (and before 2pm on Friday)
    Please notify laboratory first (ext: 20334)

  • Transport Requirements:

    Transport at room temperature

    Transport at room temperature

  • Interpretation:

    An interpretation of the results is provided with each report.

    An interpretation of the results is provided with each report.

  • Reference Ranges:

    Provided on report from referral lab.

    Lysosomal enzyme profile includes:

    ·         α-Fucosidase 

    ·         α-Mannosidase

    ·         Acid Esterase (cholesteryl storage ester disease, Wolman disease)

    ...

    Provided on report from referral lab.

    Lysosomal enzyme profile includes:

    ·         α-Fucosidase 

    ·         α-Mannosidase

    ·         Acid Esterase (cholesteryl storage ester disease, Wolman disease)

    ·         Arylsulphatase A (metachromatic leukodystrophy, MLD)

    ·         β-Galactosidase (GM1 gangliosidosis)

    ·         β-Glucosidase (Gaucher)

    ·         β-Mannosidase (β-mannosidosis)

    ·         Galactocerebrosidase (Krabbe disease, globoid cell leukodystrophy)

    ·         Hexosaminidase A (Tay Sachs, GM2 gangliosidosis B variant)

    ·         Hexosaminidase, Total (Sandhoff, GM2 gangliosidosis O variant)

    ·         Sphingomyelinase (Niemann-Pick A and B)

     

    The lysosomal enzymes profile does not include:

    ·         MPS enzymes,

    ·         α-galactosidase A (Fabry)  - Request separately, see separate entry for alpha galactosidase

    ·         Niemann-Pick C - Requires plasma for oxysterol

    ·         Multiple sulphatase deficiency

    ·         Neuronal ceroid lipofuscinoses e.g. Batten’s disease

    .         α-glucosidase (Pompe)

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  • 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:

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Sample sent to an external laboratory for testing

Turn Around:

8 weeks

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