Lyso-Ceramide Trihexoside Level (Blood)

Referring Laboratory

LabPLUS SCP Biochemical Genetics

Testing Laboratory

SA Pathology Women's and Children's Hospital, Adelaide

Department

Chemical Pathology

Delphic Registration Code (Alpha Code)

BGA

Test Code (Numeric Code)

6290

Laboratory Handling

Laboratory

LabPLUS Biochemical Genetics

Synonyms

Lyso ceramide trihexoside, Lyso-CTH, Lyso-Gb3, Fabry disease

Turnaround Time

10 weeks

Between 6 weeks and 10 weeks

Specimen Type

• Plasma

Specimen Type

• Plasma

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)
• Lithium Heparin - Non-gel (Green Cap)

Preferred

• EDTA (Lavender Cap)

Acceptable

• Please refer to Additional Information below
• Lithium Heparin - Non-gel (Green Cap)
• Lithium Heparin PST- Gel (Light Green Cap)
• SST II (Gold Cap)

Preferred Sample Volume (ml)

5

Minimum Sample Volume (ml)

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)
• Lithium Heparin - Non-gel (Green Cap)

Separate 0.2mL minimum plasma (1mL preferred) and freeze.

The first-tier test for initial diagnosis for all Fabry requests is alpha galactosidase activity.

Some female heterozygotes may have normal but low alpha-galactosidase A activity. In which case clinical correlation and testing of Lyso-Ceramide Trihexoside as second-tier testing may be performed, before proceeding with molecular analysis.

Contact Information