Department

Biochemistry

Preferred Sample Type

Suitable Specimen Types

EDTA Whole Blood
Dry Blood Spot

EDTA whole blood 5ml or EDTA Dry blood spot

Sample Processing in Laboratory

NULL

Sample Preparation

Do not freeze EDTA sample. Sample must be received at the Childrens hospital within 24hrs of collection. Store Dry blood spot frozen prior to transport.

Turnaround Time

15 working days at BCH

Sample Stability

NULL

Lysosomal Storage Disorders Testing

General Information

NULL

Patient Preparation

NULL

Notes

Dried blood spot testing is available for the diagnosis and monitoring lysosomal storage disorders including: Fabry, Gaucher, MPS I, MPSII, MPS IV and Pompe Disease.

Dried blood spot testing materials are available from the laboratory please contact duty biochemist on bleep 2506 to discuss

Department

Preferred Sample Type

Suitable Specimen Types

Sample Processing in Laboratory

Sample Preparation

Turnaround Time

Sample Stability

Lysosomal Storage Disorders Testing

General Information

Patient Preparation

Notes

Reference Range

Specifications

Link to Send Away Laboratory

Department

Preferred Sample Type

Suitable Specimen Types

Sample Processing in Laboratory

Sample Preparation

Turnaround Time

Sample Stability

Lysosomal Storage Disorders Testing

General Information

Patient Preparation

Notes

Reference Range

Specifications

Link to Send Away Laboratory

Date Record Created

Date last updated

Review Date