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Laboratory Test Reference Guide

Laboratory Information

Test Name

ELN FISH

Synonyms

del 7q11.23 micro deletion FISH
Elastin
Williams Syndrome

External Price (excl. GST)

436.73

Price Comment

Includes culture processing charge.

Specimen Collection

Adult Specimen

4 ml Heparin (Dark green) Whole blood sterile

Paediatric Specimen

1 ml Heparin (Dark green) Whole blood sterile

Sample Delivery to Lab

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

Test Information

Department

Cytogenetics

Laboratory Turnaround Time

Urgent < 5 days, Non-urgent 18 days

Method

Flourescence in situ hybridisation (FISH) with an ELN specific probe to identify and characterise 7q11.23 chromosome microdeletion associated with Williams syndrome.

Uncertainty of measurement

Refer to report

Diagnostic Use Or Instructions

The test is useful when the diagnosis is firm and/or urgency is required. Otherwise, microarray testing which detects all currently known microdeletion/duplication syndromes in one assay, is the preferred test in most cases.

Additional Information

 

Minimum Volume

1ml Heparin Whole blood sterile

Electronic Information

Registration Code

FELN

HL7 mapping code

$FELN