White cell enzymes, (Arylsulphatase, alpha-NAc-galactosaminidase,Acid Lipase) Blood

Department

Specialist Biochemistry

Delphic Registration Code

WCEN

Laboratory Handling

Phlebotomy

Collect 3 EDTA samples if possible

Registration

Please send all or as many EDTA samples as possible directly to Specialist Chemistry AND phone Paediatric Biochem on 80118. If VLFA included on request send at same time. If after hours place into spec bio fridge.

Laboratory

Whole blood EDTA in Fridge until prepared (within 18 hours of collection)

Synonyms

Acid Lipase
alpha-NAc-galactosaminidase
Arylsulphatase
Fucosidase
Galactocerebrosidase
Glucuronidase
Hexosaminidase
Krabbe
Leucocyte Lysosomal Enzymes
Lysosomal Enzymes
Mannosidase
Palmitoyl protein thioesterase
Sandhoff Disease
Sphingomyelinase
Tay Sachs Disease
Tripeptidyl peptidase

Turnaround Time

6 weeks

Test Code

5605

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

12.0

No of Samples Required

3

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Minimum Sample Volume (ml)

8.0

Pre-testing Requirements

PLEASE CONTACT LAB ON 0800 843 522 EXT 80118 BEFORE SENDING TO ENSURE SAMPLES ARE PREPARED WITHIN 18 HOURS OF COLLECTION

OUTSIDE Christchurch - DO NOT COLLECT SAMPLES LATE THURSDAY OR ON FRIDAY

Samples MUST arrive at CHL Monday-Friday before 3:30 pm NOT AT WEEKENDS

Additional Specimen Information

Promptly deliver to lab protected from extremes of hot or cold. Must be prepared within 18 hours of collection
In the lab prior to leucocyte preparation spot 100uL well mixed EDTA whole blood onto a Guthrie card for alpha-galactosidase measurement (which has been added to lysosomal enzyme panel August 2018). Dry at room temperature. Place in paper envelop NOT plastic. Attention Chris Leaver.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Promptly deliver to lab protected from extremes of hot or cold. Must be prepared within 18 hours of collection

Test Method

to be entered

Non-Funded Test Cost

$820.9 (Exclusive of GST)

Billing Code

5605

Referred to SA Pathology, Adelaide Womens and Childrens Hospital, Australia.
Please provide a FULL clinical summary. White cells need to be prepared within 18 hours of collection - NOT processed at weekends. Leucocyte Lysosomal Enzyme Analysis includes testing for: Acid lipase, Alpha Fucosidase, Alpha-Mannosidase, Arylsulphatase A, Beta-Galactocerebrosidase, Beta-Galactosidase, Beta-Glucuronidase, Beta-Hexosaminidase A, Beta-Hexosaminidase Total, Palmitoyl Protein Thioesterase, Sphingomyelinase, Tripeptidyl Peptidase I, Gauchers - plasma glucosylsphingosine and since August 2018 Fabry disease - blood spot alpha-galactosidase. For more information http://www.sapathology.sa.gov.au/wps/wcm/connect/SA+Pathology+Internet+Content+New/Content/Clinicians/Pathology+Collection+Guide/

Dried blood spots on Guthrie card now the preferred sample for Pompe disease and alpha-galactosidase testing.

Samples for VLCFA best taken in Chch from the whole blood sample sent for white cell enzymes to ensure as much whole EDTA blood is available for preparation of white cell (ie. don't separate for VLCFA prior to sending blood for WC enzymes). SEPARATING STAFF - PLEASE INFORM Chris Leaver / Jenny Chu EXT 80118 WHEN SAMPLES HAVE ARRIVED

Contact Information

Enquiry Form