Leucodystrophy profile (Lysosomal enzyme tests)

Pathology category

Biochemistry - referred tests

Code

LEUD

Referral code

Request form

Test information

PLEASE SEND SAMPLE MON – WED to arrive before 12pm as needs to be received by referral laboratory within 24 hours of collection to isolated leucocytes from whole blood. Please contact laboratory prior to sending ([email protected]) or ex 30651.

See Birmingham Women’s and Children’s Newborn Screening & Biochemical Genetics Handbook for more information: download.cfm (bwc.nhs.uk) or Our pathology services | Birmingham Women’s and Children’s (bwc.nhs.uk)

Guidelines

Best Practice Guidelines – MetBio.net

Pre-analytical

Please note samples must be sent to BCH within 24hrs of receipt. Therefore requests can only be processed Monday- Wednesday and samples need to be received before 12 pm.

Reference range

see report

Tube type

Tube type info

EDTA

Special requirements

WHOLE BLOOD

Minimum volume

10mL

Assay frequency

TAT Inpatient (urgent)

TAT Inpatient

4 weeks

TAT GP/Outpatient

4 weeks

Referral lab

Depts of Blood Sciences and Metabolic Biochemistry, Birmingham Children's Hospital