Genetic Tests

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We consider Molecular Biology and Genetics the diagnostic fields of the future, which is why we have chosen state-of-the-art, very high-performance instruments that allow us to use constantly updated methods ranging from the now well-established Real Time PCR to various sequencing techniques, which have become indispensable in the modern diagnostic landscape.

Instrumentation currently in use:
N. 1 QIAGEN automated total DNA/RNA extractor, QIAsymphony SP model;
N. 1 Automatic pipettor for the preparation of QIAGEN QIAgility PCR reactions;
N. 1 Thermo Fisher Sanger sequencer, SeqStudio Flex model;
N. 1 QIAGEN Pyrosequencing instrument, PyroMark Q48 Autoprep model;
N. 1 BIO-RAD Real Time PCR thermal cycler, CFX96 model;
N. 1 QIAGEN Real Time PCR thermal cycler, Rotor-Gene Q model;
N. 1 Analytik Jena end-point thermal cycler, BiometraTAdvanced 96 G model;
N. 1 QIAGEN automated capillary electrophoresis device, QIAxcel Advanced System model;
N. 1 Thermo Fisher DNA/RNA assay fluorometer, Qubit 4 model;
N. 1 AFI ventilated centrifuge, ISA 0.6L model;
N. 1 Haier -86 °C Biomedical freezer, Twin Cool series;
N. 1 BIO-RAD spectrophotometer, SmartSpec Plus model;
N. 1 Streamline laminar flow hood, SCV model.

Genetics

Type of sample/quantity required: for hereditary disease genetics (e.g. MDR1 gene mutation or polycystic nephropathy in cats) send whole blood in a test tube with any anticoagulant. For cancer genetics, if one chooses to have tests in addition to cyto/histo-pathological examinations, it is advisable to follow the recommendations of the reference pathologist when choosing the most suitable matrix. If tests are to be carried out without the support of cytopathological and histological examination, ensure that the smears sent have good cellularity, with tissues embedded in paraffin or saline but not formalin. For the BRAF mutation, the recommended volume is at least 10 ml of urine collected by spontaneous urination.

Storage/shipping methods: if samples are not shipped the same day, they can be stored at 4°C for a few days (in the case of fresh matrices such as blood and tissue in physiological saline) or at ambient temperature (including tissues and slides). Samples can be shipped at ambient temperature;

Reception days: every day from Monday to Saturday;
Examination/reporting days: every day from Monday to Saturday;
Waiting times: reporting times vary depending on the technique used. For hereditary diseases, they do not generally exceed seven working days (with some exceptions). For cancer genetics, due to the technical and interpretative complexity of some tests (especially PARR), reporting times are around 15 working days.