Clinical Specimen Collection & Submission Guide
General principles
Use two patient identifiers, the correct container, adequate specimen volume, complete request documentation and a collection time/date where required. Prevent cross-contamination and maintain traceability.
Specimen-specific guidance
Blood for molecular genetics
Use the tube type specified for the assay. Avoid inappropriate anticoagulants, gross haemolysis or prolonged uncontrolled storage. For cell-free DNA assays, use the validated collection tube and transport window.
Buccal swabs
Use laboratory-approved swabs. Avoid food, drink, smoking or oral contamination immediately before collection according to kit instructions. Label each participant independently.
FFPE tissue
Submit an appropriate tumour block or unstained sections as specified. Pathology review should confirm diagnosis, tumour content and adequacy. Decalcified or poorly fixed material can compromise molecular testing.
Histopathology/digital pathology
Slides should be clean, correctly labelled, adequately stained and free of excess mounting medium or major artefact. Digital scanning cannot correct poor tissue processing or staining.
PGT specimens
Embryo-biopsy samples require strict identity control and validated transfer from the embryology laboratory to the genetics laboratory. Case setup for PGT-M/PGT-SR should be completed before biopsy whenever required.
Clinical use note: This resource supports professional decision making but does not replace current specialty guidelines, multidisciplinary review, the validated scope of the exact laboratory assay, or patient-specific clinical judgement.
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