8. REPORTING

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8.1 STANDARDISATION

It is the responsibility of the cytogeneticist to provide a clear and unambiguous description of the cytogenetic findings and an explanation of the clinical implications of the results. Reports should be issued in a standardised manner, clear to read for the non-specialist.

Handwritten alterations should never be made to the report. It is not necessary to include details of culture procedures, unless relevant, e.g. from direct or cultured CVS, direct or cultured tumour. Laboratory records should be auditable so that the individual cells and slide analysed can be traced back through to the culture reagents and receipt of sample. Analysis sheets should include the resolution levels of the banding techniques used and details of any additional banding techniques used.

Reports should be issued in a standardised manner, clear to read for the non-specialist.

The report should include the following information:

• date of referral and date of report
• name of referring clinician
• laboratory identification
• patient identification using two different identifiers, i.e., name and birth date
• unique sample identifier
• reason for referral
• tissue examined
• clinical indication of test e.g. chromosome analysis or FISH
• Total number of cells counted and analysed for haematological disorders and interphase FISH
• the banding resolution level or a disclaimer if the quality is below the minimum standard for referral
• Karyotype in ISCN or summary statement if complex FISH result
• a comprehensive written description of any chromosome result/abnormality
• a written interpretation (that is understandable to a non-specialist)
• name and signature of the authorised person

The report of an ABNORMAL case should include the following in addition to the above:

• a clear written description of the abnormality, and whether the karyotype is balanced or unbalanced
• karyotype designation using correct ISCN nomenclature where practicable
• cell numbers should be given when mosaicism present
• the name of any associated syndrome/disease
• whether the cytogenetic result is consistent with the clinical findings, and/or an indication of the expected phenotype
• recommendations for genetic counselling when appropriate
• request for samples to confirm prenatal results as internal quality control. Postnatal confirmation of a prenatally diagnosed balanced rearrangement may help to ensure the karyotype record appears in the child's own notes

The report should include the above information unless National legislation states that is done by a different medical professional.

8.1.1 SUBSTANDARD ANALYSIS

In cases where the quality or level of the analysis fails to achieve agreed standards, the report should be qualified and explain the limitations of the results.

8.1.2 CHROMOSOMAL VARIANTS

Polymorphisms such as heterochromatin size, satellite size, fluorescent intensity or pericentric inversions of heterochromatin should, to avoid confusion for the non-specialist, be excluded from the report and only documented in the patient's laboratory record.

Occasionally polymorphic variants need to be mentioned and their significance should be clearly indicated in the interpretative comments. e.g. donor vs. host bone marrow grafting.

8.1.3 MOSAICISM AND PSEUDOMOSAICISM

In general, reports should not mention mosaicism or pseudomosaicism, if it is apparently non-clonal or likely to be artefactual.

Deciding what constitutes a non-clonal aberration is not always easy, especially in cancer cytogenetics, so the application of general rules together with consideration of the clinical referral need to be kept in mind when reaching a decision. (For guidance see ISCN or EUCROMIC Quality Assessment Group, Eur. J. Hum. Genet. 1997, 5:342-350 or ACC collaborative study 1994).

8.1.4 MATERNAL CONTAMINATION

If maternal contamination is relevant to the interpretation of the report a comment should be made. It should always be noted in the internal report.

8.1.5 FISH REPORTS

Since FISH testing is now widely used in European laboratories and in accordance with professional custom, it is no longer necessary that FISH reports carry a disclaimer stating that the commercial probes have not been licensed for diagnostic use.

The report nomenclature should follow the latest of the ISCN edition where possible (see section 8.1). The report should contain a written description and interpretation of the result which clearly states the result is normal. The report should be in simple language so it can be clearly understood by the recipient/clinician.

Where strict use of ISCN nomenclature would make the report unwieldy, e.g., where large number of probes have been used, a summary comment may be given with appropriate comments in the report e.g. MLL rearrangement positive.

The probe name and source should be given for each case and any limitations of the probe should be clearly stated in the report.

The report should indicate whether a banded karyotype analysis has been undertaken or not. Where karyotype analysis has been undertaken, FISH results may be sent out prior to karyotype analysis but with the indication of their provisional nature (haematological where no metaphases are covered). This is of extreme importance with abnormal prenatal FISH results, where irreversible clinical actions could follow.

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Last changed: 2008-02-04