Biochemistry

Preferred Sample Type

Lyso GB3

Suitable Specimen Types

Serum

Lyso GB3

Specimen Volume

A minimum of 100µL of serum is required

Sample Preparation

None

Turnaround Time

20 working days

Sample Processing In Laboratory

Usual

Sample Stability

28 days at 4°C

General Information

This assay provides a quantitative measurement of Lyso GB3 and is used as a screening tool to determine whether further enzyme analysis or genotyping is required where there is clinical suspicion of Fabry disease. It is also used to monitor the efficacy of ERT.

Patient Preparation

No specific patient preparation is required.

Notes

Plasma Lysoglobotriaosylsphingosine (Lyso GB3) levels have been shown to be elevated in patients with Fabry disease and in patients with classical and non-classical phenotypes.  Lyso GB3 is a degradation product of the accumulating GB3 in lysosomes. It is useful in combination with AGalA activity and clinical signs and symptoms to determine whether a particular AGalA mutation may be classically pathogenic. Lyso GB3 levels have also been shown to fall dramatically from baseline in patients receiving ERT.

Reference Range

The lysoGB3 assay is intended as a screening assay to either initiate further investigation or to monitor a patients response to therapy. Therefore there is not a reference range associated with this assay, but a cut-off to prompt further action or to rule out Fabry’s disease.

Specifications

  • EQA Status:

    ERNDIM

Creation Date

Tuesday, 10 March 2020

Modification Date

Tuesday, 10 March 2020

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University Hospitals Birmingham medical laboratories at Queen Elizabeth Hospital, Heartlands Hospital, Good Hope Hospital and Solihull Hospital are UKAS (United Kingdom Accreditation Service) accredited to the ISO 15189:2012 standard. For a list of accredited tests and other information please visit the UKAS website using the following link: https://www.ukas.com/find-an-organisation/

  • Molecular Pathology is a UKAS accredited medical laboratory No. 8759
  • Biochemistry is a UKAS accredited medical laboratory No. 8910
  • Haematology and Transfusion is a UKAS accredited medical laboratory No. 8784
  • Clinical Microbiology is a UKAS accredited medical laboratory No. 8760
  • Cellular Pathology is a UKAS accredited medical laboratory No. 10141
  • Musculoskeletal laboratory is a UKAS accredited medical laboratory No. 9897
  • Heartlands, Good Hope and Solihull Hospital pathology laboratories are a UKAS accredited medical laboratory No.8217.

Tests not appearing on the UKAS Schedule of Accreditation currently remain outside of our scope of accreditation. However, these tests have been validated to the same high standard as accredited tests and are performed by the same trained and competent staff.

For further test information, please visit the test database: http://qehbpathology.uk/test-database

For further information contact Louise Fallon, Quality Manager, 0121 371 5962