Laboratory Test Reference Guide

Laboratory Information

Test Name

LDL receptor mutation

Synonyms

LDL receptor mutation screening for familial hypercholesterolaemia
Familial hypercholesterolaemia
LDLR

Specimen Collection

Adult Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Paediatric Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Sample Delivery to Lab

Ambient on day of collection. Refrigerate overnight or weekend then send ambient.

Test Information

Department

Sendaway - Cytogenetics

Additional Information

Minimum Volume

4 ml EDTA. Paediatric 0.5 ml EDTA

Electronic Information

Registration Code

LDLRP

HL7 mapping code

$LDLR