FISH, general region-specific

Test Identifier Information
Registration Code	CTGN
Method	Fluorescence in situ hybridization (FISH) is a technique in which DNA probes, labelled with different coloured fluorescent tags, are applied to cells on a glass slide, in order to visualize one or more specific regions of the genome. FISH can either be performed on metaphase chromosomes or interphase nuclei.
Diagnostic Use / Indications	FISH has many applications and is particularly useful for: Family follow-up testing of well-recognised microdeletion syndromes, eg. 22q11 deletion (TUPLE1) Williams syndrome ELN). Sex determination studies, eg. neonates with ambiguous genitalia, disorders of sexual development. Probes routinely applied: SRY (Yp) and X centromere. Other probes available, contact lab to discuss Rapid screening of neonates for trisomy 21 (or other aneuploidy) Haematological studies for specific rearrangements. Discuss with laboratory for further advice
External Price	$0.00(Exclusive of GST)

Specimen Collection
Specimen Collection Protocols	Non-paediatric: 3-5 ml lithium heparin (green-top tube) peripheral blood, well-mixed Paediatric or difficult bleed: 1ml lithium heparin (2 paediatric green-top tubes) peripheral blood, well-mixed Clotted blood unacceptable
Patient Specimen	3-5ml peripheral blood (lithium heparin)
Paediatric Specimen	1ml peripheral blood (lithium heparin)
Sample Delivery to Lab	Room temperature

Instructions for Referral to CHLabs
Aliquot Instructions	Room temperature or refrigerated
Aliquot Transport to CHL	Do not spin or separate this sample

CHLabs Laboratory
Department	Haematology - Cytogenetics
Contact Details	Email This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number	03 364 1425
Test Availability	Testing is usually performed 3-4 times a week
Turnaround Time	Urgent within 5 days; Non-urgent: within 18 days
Interpretation	Comment within the report
Uncertainty of Measurement	FISH analysis targets specific chromosomal regions. The probes used in the test will only detect rearrangements of and enumerate the specific chromosome regions they encompass.
Additional Information	If required, please contact this laboratory for further information.
Delphic Number Test Number	5445