FISH – Fluorescence In Situ Hybridization

• Aneuploidies in chromosomes 13, 18, 21, X, Y
• Microdeletions and duplications (e.g., 22q11.2, 15q11.2, 7q11.23)
• Structural abnormalities: translocations, inversions, deletions
• Marker chromosomes
• Gene fusions and amplifications in cancer
  

Note: FISH is highly specific but limited to the targeted region being probed. It does not offer genome-wide screening.

Prenatal Samples

• Amniotic Fluid
  • Collected via amniocentesis (15–20 weeks gestation)
  • Volume: 15–20 ml
  • Container: Sterile screw-capped container (no fixatives)
  • Transport: Room temperature; deliver within 24 hours
  • Important: Do not refrigerate, centrifuge, or freeze
• Chorionic Villi (CVS)
  • Collected via chorionic villus sampling (11–14 weeks gestation)
  • Amount: 10–20 mg of tissue
  • Container: Sterile container with normal saline or transport medium
  • Transport: Room temperature; deliver within 24 hours
  • Important: Do not use preservatives or fixatives
• Products of Conception (POC)
  • Collected from fetal tissue post-miscarriage or stillbirth
  • Preferred Sample: Placental/fetal tissue (avoiding maternal decidua)
  • Amount: Minimum 20–30 mg of fresh tissue
  • Container: Sterile container with normal saline or transport medium
  • Transport: Room temperature; deliver within 24 hours
  • Important: Avoid formalin or any fixative
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Postnatal Samples

• Peripheral Blood
  • Used for testing children or adults with developmental or congenital disorders
  • Volume: 3–5 ml
  • Container: Heparin (green-top) vacutainer
  • Transport: Room temperature; deliver within 24 hours
  • Important: Do not refrigerate or delay transport

Rapid Turnaround:

• Provides preliminary or confirmatory results in as little as 2–5 days, ideal for time-sensitive clinical decisions.

Targeted and Precise:

• Offers high specificity for known chromosomal and gene-level abnormalities—especially useful in confirming diagnoses or monitoring treatment.

Complements Other Techniques:

• Bridges the gap between karyotyping and molecular methods by confirming rearrangements and microdeletions at specific loci.

Oncology & Prenatal Versatility:

• Highly adaptable for both prenatal aneuploidy detection and oncogenic rearrangement analysis.

Interpretable Reports:

• Labassure provides clinically annotated reports with probe targets, observed signals, and diagnostic interpretation aligned with international guidelines.