Leucocyte Lysosomal Enzyme Studies (Blood)

Testing Laboratory

Department

Chemical Pathology

Delphic Registration Code (Alpha Code)

BGA

Test Code (Numeric Code)

6290

Laboratory Handling

Phlebotomy

3x EDTA required

Transport

Ambient, Urgent. Samples accepted up to 12pm NOON before the weekend or a public holiday.

Registration

LabPLUS SCP Biochemical Genetics.

3x EDTA TUBES - Do Not Spin - Room Temperature - HAND DELIVER to BIOCHEMICAL GENETICS immediately during normal working hours with numbers - If after hours leave in Biochemical Genetics box at Room Temperature.
If also requested for VLCFA - Do Not Spin - hand deliver all tubes to Biochemical Genetics.

Separating

Do not centrifuge

Laboratory

This blood can also be used for VLCFA if requested at the same time.

If insufficient blood received continue with harvest and contact requestor for a targeted enzyme/disorder.

Sample Stability

24hrs at Ambient temperature

Synonyms

White Cell Enzymes, beta-galactosidase (GM1-gangliosidosis), beta-hexosaminidase A (Tay-Sachs disease), total hexosaminidase A (Sandhoff disease), arylsulphatase A (metachromatic leucodystrophy, MLD, Cerebroside sulphatase), Glucosylsphingosine (Gaucher disease), beta-galactocerebrosidase (Krabbe disease), sphingomyelinase (Niemann-Pick disease types A & B), alpha-fucosidase (Fucosidosis), alpha-mannosidase (Mannosidosis), acid lipase (Wolman's disease), plasma alpha-N-acetylgalactosaminidase, alpha-mannosidase (I-cell disease, mucolipidosis type III and Schindler's disease), palmitoyl-protein thioesterase I (Neuronal Ceroid Lipofuscinosis, NCL1), (infantile Batten disease), tripeptidyl peptidase I (Neuronal Ceroid Lipofuscinosis, NCL2), (late infantile Batten disease), Neurolipidosis Screen

Turnaround Time

8 weeks

Specimen Type

• Whole Blood

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

10

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

10

Aliquot Instructions

Sample Type

• Whole Blood

Minimum Volume (ml)

10

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Micro-collect specimens are unsuitable. DO NOT FREEZE. Whole blood must be transported at room temperature and received in the laboratory within 24h of collection to ensure white cell viability and accurate results. Samples with clots are unsuitable.
We can accept samples up to NOON (12pm) prior to the weekend or a public holiday to allow for laboratory processing. The request may not be processed if received after NOON prior to weekends or public holidays.
Please inform laboratory on ext. 22016 or via LabLink of specimen transport arrangements and an URGENT sticker is recommended.

If also requested for VLCFA, please DO NOT spin, the plasma will be harvested by Biochemical Genetics at the same time as the white cells.

Resources

• SA Pathology Test Catalogue

Contact Information