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Specify the type and tissue source of the sample.

it may be appropriate to collect two independent samples for genetic testing to reduce the risk of an erroneous result due to a sample collection error [RCPA 2007]. The report should indicate if such precautions were taken.

of the sample should be specified i.e. whether it is a fresh, frozen, fixed, etc. It is important to note whether the quality of the received sample is suboptimal as this may have a bearing on the interpretation of the test result.

 Two independent fresh blood samples  Single fresh blood sample (tube signed by patient)  Fixed normal and malignant tissue from descending colon  Single fresh blood sample & fresh buccal swab  Frozen sample from left breast cancer  Amniotic fluid (tube signed by parent)  Genomic DNA sample/s (extracted by referring lab).

When testing fresh samples, it is essential that the delay between collection and receipt be specified on the report. A prolonged delay may indicate that the sample quality has been compromised.

If the DNA had been extracted by another laboratory, the sample ID of that laboratory should be recorded, either at this point or as one of the patient identifiers (Section 3.2.2).

The report must unambiguously identify the gene or genetic locus being assayed. The standard gene nomenclature as described by the Human Genome Organisation Gene Nomenclature Committee should be used. It is recognised that synonyms are in common use, but they are not specific and there is great potential for confusion to both current and future readers of the report. It is strongly recommended that standard gene names be used, with synonyms or alternative names shown in brackets until referrers become familiar with the correct terminology. Fusion genes should be shown as GENE1/GENE2, preferably in mechanistic order i.e. 5’ to 3’ in the fusion gene [Gulley et al 2007]

It is essential that the reference sequence used by the laboratory for the analysis is specified. The Human Genome Variation Society recommends that the genomic or gene sequence (cDNA), rather than the protein sequence, be used as the basis for reporting all genetic tests . NCBI Reference Sequences, if available, are recommended . The Human Genome Organisation Gene Nomenclature Committee nominates a recommended NCBI Reference Sequence for each gene or locus with an approved name.