Rare Disease Forum by Genetidoc Genetic Clinic › Forums › Genetic Testing › Fluorescence In Situ Hybridization (FISH) › What happens after a FISH result, and is it available in India?
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Genetic Counselor.
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September 15, 2026 at 3:42 pm #938
Anonymous
ModeratorWhat happens after a FISH result comes back, and is this testing available in India?
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September 15, 2026 at 3:47 pm #939
Genetic Counselor
KeymasterA FISH result is generally reported in one of two ways for each probe used: the expected pattern was seen, meaning no change was detected in that specific region, or an abnormal pattern was seen, meaning a piece of that region is missing, duplicated, or relocated. Because the test is narrowly targeted, what happens next depends heavily on the clinical situation:
• In pregnancy, a result suggesting a common chromosome condition is treated as preliminary and is followed by a complete chromosome analysis of the same sample to confirm the finding before any further decisions are discussed with a genetic counselor.
• In a child or adult with a suspected microdeletion or microduplication syndrome, a confirmed finding usually leads to referral to relevant specialists, since these conditions often involve specific organ systems, such as the heart or immune system, that benefit from early, targeted follow-up.
• In relatives of someone with a known change, results clarify whether that person also carries the change, which directly shapes counseling about future pregnancies and, where relevant, monitoring for that person themselves.
• In cancer care, a confirmed genetic change becomes part of the pathology report used to finalize a diagnosis, estimate prognosis, and, for some cancers, decide whether a medication targeted to that specific genetic change is a reasonable treatment option.
• When a result does not answer the underlying question, a geneticist may recommend a broader test, such as chromosomal microarray or genome sequencing, to look beyond the one region already checked.
Fluorescence in situ hybridization testing is available in India through numerous accredited diagnostic and genetics laboratories, for prenatal, postnatal, and oncology applications, and turnaround times of one to two days are commonly offered for the prenatal and hematology panels. When performed prenatally, this testing falls within the same regulatory framework that governs other prenatal diagnostic procedures in India, requiring that it be carried out at a registered genetic clinic or laboratory and accompanied by genetic counseling both before and after the procedure. As with other genetic tests, families are encouraged to confirm that a laboratory holds appropriate accreditation, to ask which specific chromosome regions or genes are covered by the probes being used, and to check that pre-test and post-test genetic counseling is included, since understanding exactly what a targeted test does and does not rule out is central to using the result well.
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