Newcastle Laboratories

Glycogen storage disorders

Clinical Background:

A panel of enzymes for investigation of glycogen storage disorders (GSD)
Analysis of the GSD gene panel is the preferred test in patients with a suspected GSD.
Analysis of individual enzyme may be re...

A panel of enzymes for investigation of glycogen storage disorders (GSD)
Analysis of the GSD gene panel is the preferred test in patients with a suspected GSD.
Analysis of individual enzyme may be required to confirm result of genetic testing

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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 mL 

    5 mL 

  • Minimum Volume Paediatric:

    5 mL 

    5 mL 

  • Special Requirement:

    Must reach lab for processing within 24 hours (and before 2pm).
    NOT acceptable on Friday.

    Must reach lab for processing within 24 hours (and before 2pm).
    NOT acceptable on Friday.

  • Transport Requirements:

    Please notify laboratory before sending
    First class post

    Please notify laboratory before sending
    First class post

  • Reference Ranges:

    Panel consists of:
    Phosphorylase A 8 to 140 μmol/min/g protein
    total phosphorylase 22 to 160 μmol/min/g protein
    phosphorylase b kinase 6 to 30 mmol/min/g Hb
    Debrancher 0.3 to 3 μmol/min/g protein

    Panel consists of:
    Phosphorylase A 8 to 140 μmol/min/g protein
    total phosphorylase 22 to 160 μmol/min/g protein
    phosphorylase b kinase 6 to 30 mmol/min/g Hb
    Debrancher 0.3 to 3 μmol/min/g protein

  • 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 analysis

Turn Around:

2 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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