What should you know about Labster next-generation sequencing?

Next-generation sequencing examines DNA, and some panels also examine RNA, from a sample such as blood, saliva, a swab, an embryo biopsy or tumour tissue. The laboratory compares the sequence with a reference and reports variants that may affect a gene or its function.

The right panel depends on the question. Carrier screening looks for inherited variants that could be passed to a child. Genomic tumour profiling looks for changes in cancer cells that may help guide treatment. A finding can be pathogenic, uncertain or not detected, and a result may need interpretation with personal and family history.

Ask what sample is needed, whether the test examines inherited DNA or tumour DNA, and what the laboratory can and cannot report. Make sure the consent process covers possible findings unrelated to the original question and whether results could have implications for relatives.

Results are reviewed by the ordering clinician or a genetics professional. A result may lead to another test, a treatment discussion, screening for a related condition or no change in care. Do not interpret an uncertain result as proof of disease, and do not make family or treatment decisions from a report without clinical guidance.

The sequencing procedure itself is usually a sample collection, but contact the clinic about unexpected bleeding, infection or a reaction after a tissue procedure. Seek urgent care for breathing difficulty, swelling of the face or fainting after any procedure. For inherited findings, arrange timely counselling if the report suggests a possible risk that needs confirmation.

What question is this panel intended to answer? Which sample will be tested? Will the result cover inherited changes, tumour changes or both? Who will explain uncertain findings? Could the result affect relatives, future pregnancies or treatment choices?