Fluorescence In Situ Hybridization

Visualize genetic changes in real time with FISH technology

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What is FISH?

Fluorescence In Situ Hybridization (FISH) is a targeted molecular cytogenetic technique that uses fluorescently labeled DNA probes to detect specific chromosome regions, enabling identification of micro deletion/duplications, and gene rearrangements by binding to complementary DNA sequences on metaphase or interphase chromosomes. It is commonly used in prenatal diagnosis, cancer testing, and genetic disorder analysis.

What genetic conditions can FISH diagnose?

  • Microdeletion syndromes: DiGeorge syndrome (22q11.2 deletion), Williams syndrome (7q11.23 deletion), and Prader-Willi/Angelman syndromes (15q11–q13 deletion).
  • Chromosomal aneuploidies: Rapid prenatal detection of trisomies 21, 18, and 13, as well as sex chromosome abnormalities (Turner and Klinefelter syndromes).
  • Structural rearrangements: BCR-ABL fusion in chronic myeloid leukemia (CML), PML-RARA in acute promyelocytic leukemia, and other translocations associated with hematologic malignancies.
  • Solid tumor genetics: HER2/neu amplification in breast cancer, EGFR deletions, and other oncogene alterations guiding targeted therapy.

Who Can Consider FISH Testing?

  • Rapid prenatal diagnosis in pregnant women after abnormal ultrasound, positive screening, or advanced maternal age.
  • Couples with recurrent pregnancy loss.
  • Individuals with suspected microdeletion syndromes.
  • Patients with hematologic malignancies.
  • Identification of gene amplifications or rearrangements in patients with solid tumors to guide targeted therapy.

Test Specification

Probes

VYSIS CEP

Sample type

Blood in Heparin tube/AF/CVS/FFPE block

1 week

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Why choose OneDNA

Comprehensive Coverage

Comprehensive testing across both molecular and cytogenetic platforms

Accredited Laboratories

NABL & CAP accredited lab

Support & Care

End-to-end support including genetic counselling and report guidance.

Early & Accurate

High accuracy with advanced technologies and stringent quality controls

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Frequently Asked Questions

Usually done via a blood sample Can also be done using bone marrow or tissue samples Blood-based test = quick and minimally uncomfortable

When quick results are needed When there’s a known suspected condition For cancer-related genetic analysis

No, FISH is not a predictive screening test. It only checks for specific known genetic changes at the time of testing.

FISH is often used to: Confirm a suspected finding Provide faster clarity Focus on a specific genetic region

Your doctor may recommend repeat testing or suggest additional genetic tests.

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