Specimen Requirements for Formalin Fixed Paraffin Embedded (FFPE) Tissues:
Requests for FISH testing can be made using the Diagnostic Genetics request form found on the Lab Plus website and Test Guide.
6 x slides of ~4 um thickness paraffin embedded tissue.
1 x H&E stained slide with the area of interest marked.
All specimens should be processed through a Histopathology laboratory.
All specimens sent must be accompanied by the following:
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Two forms of matching identification on both the slides and the form
.
If these do not match, LabPlus policy requires a specimen labelling error form to be sent to the clinician,
and although the specimen may be processed, a result will not be released until the form is received back.
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A marked H+E slide with the area/s to be targeted
If multiple areas are targeted, please indicate whether they need to be analyzed separately.
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A copy of the histology report
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Additional relevant information
.
This includes whether the specimen has been decalcified or has undergone additional histological processing,
areas of different morphology within the tumour sample, and the presence of more than one tumour within the sample.
Failure to include relevant information may result in a reporting delay, as consultation with LabPlus pathologists may be required.
See also HER-2 FISH breast cancer
See also POC Chromosome analysis
Diffuse Large B Cell Lymphoma (DLBCL)
Diffuse large B-cell lymphomas (DLBCLs) are B-cell neoplasms which constitute 25-30% of adult non-Hodgkin lymphomas. Approximately 30% of DLBCL cases show rearrangements of the 3q27 BCL6 gene, 20% show rearrangements of the 18q21 BCL2 gene, and 8q24 MYC rearrangements have been shown to occur in 10% of cases, often in conjunction with either an IGH/BCL2 or BCL6 rearrangement (Swerdlow et al. 2008 World Health Organisation Classification of Tumours of Haematopoietic and Lymphoid tissues, 4th Edition).
FISH studies using MYC, BCL2 and BCL6 break apart probes and MYC/IGH duel fusion probe.
TAT 18 calendar days
Molar pregnancy
Ploidy studies in query molar pregnancy (Products of Conception - POC) using alpha satellite FISH probes for chromosomes 18, X and Y and locus specific FISH probes for chromosomes 13 and 21. TAT in 18 calendar days
Aneuploidy
Checking for trisomy and monosomy of chromosomes 13, 18, 21, X and Y and ploidy level in POC.
TAT 18 calendar days
Lipoma
Deletions of 13q and 16q common in spindle cell/pleomorphic lipomas (benign tumours)
Detection of deletion of long arm of chromosome 13 using RB1 (13q14) FISH probe
Detection of deletion of long arm of chromosome 16 using BAC FISH probe RP11-325K04 (16q13)
TAT 18 calendar days
Liposarcoma
Amplification of the 12q15 MDM2 gene locus is the characteristic abnormality associated with either well differentiated or de-differentiated liposarcomas, and less frequently in pleomorphic liposarcomas.
FISH studies using MDM2 (12q15) and CDK4 (12q14.1) FISH probes.
TAT 18 calendar days
Gliomas
Deletions of 1p36 and 19q13 (1p/19q deletions)
Amplification of EGFR
Gain of chromosome 7 (Cen7/EGFR probe) and loss of chromosome 10 (Cen10/PTEN probe).
Homozygous deletion of CDKN2A/2B
TAT 7 calendar days
Melanoma
Melanoma FISH probe panel (CCND1, MYB, CEP6, RREB1)
Homozygous loss of CDKN2A (9p21)
Gain of MYC (8q24)
TAT 18 calendar days
Renal Cell Carcinoma
Clear cell RCC - 3p deletions (deletion of relevant regions in the short arm of chromosome 3) using FISH probes for FHIT (3p14.2), VHL (3p25) and BAP1 (3p21).
Papillary RCC - Trisomy of chromosome 7 and 17, loss of chromosome X and Y using centromeric probes.
TFE3 (Xp11.2) rearrangement
TAT 18 calendar days
OTHER DISEASES AND TISSUE TYPES - For information on FISH studies available for other diseases and tissue types and TATs, please see the FISH PROBE LIST.