Polymerase Chain Reaction

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What is PCR?

PCR (Polymerase Chain Reaction) is a laboratory technique used in genetic testing to rapidly make millions of copies of a specific segment of DNA. This amplification allows even a very small amount of genetic material from blood to be studied in detail for accurate analysis. By increasing the quantity of targeted DNA, PCR enables healthcare professionals to detect genetic variations, identify diseases, and support personalized treatment decisions with high precision.

What Genetic Conditions Can PCR Diagnose?

  • Trinucleotide repeat disorders — Huntington's disease, Fragile X syndrome, Myotonic dystrophy, Friedreich's ataxia; detected via TP-PCR or fragment length analysis.
  • Somatic mutations in cancer — KRAS, BRAF, EGFR hotspot mutations via RT-PCR.
  • Prenatal diagnosis — Rapid aneuploidy detection (trisomy 21, 18, 13) via QF-PCR from amniotic fluid or CVS samples.
  • Pharmacogenomics — CYP450 gene variants affecting drug metabolism via Multiplex PCR.

Who Should Consider Taking Whole Exome Sequencing?

  • Individuals with neurological or inherited symptoms
  • Cancer patients or those with suspected tumors
  • Pregnant women (high-risk or advanced maternal age)
  • Individuals starting or currently on medication

Test Specification

TP-PCR

  • Variant: Trinucleotide repeat expansion
  • Sample Type: Blood in EDTA
  • TAT: 2–3 weeks

Rt-PCR

  • Variant: Common targeted mutations
  • Sample Type: FFPE block
  • TAT: 2 weeks

QF-PCR

  • Variants: Short tandem repeats
  • Sample Type: AF/CVS
  • TAT: 4 days

Multiplex PCR

  • Variants: Single nucleotide polymorphisms
  • Sample Type: Saliva
  • TAT: 10 days

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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

A healthcare worker collects a small sample from you & this is typically a swab from inside your nose or throat, a small tube of saliva you spit into, a blood draw, or a urine sample, depending on what is being tested.

An inconclusive result means the lab could not get a clear positive or negative answer. This can happen due to a low-quality sample, a borderline level of the target, or technical issues during processing. Your doctor will usually recommend repeating the test with a fresh sample. It does not mean you definitely are or are not infected, it simply means the result was not clear enough to interpret confidently.

RT-PCR (Reverse Transcription PCR) is used when the starting material is RNA rather than DNA. An enzyme called reverse transcriptase first converts the RNA into complementary DNA (cDNA), which then serves as the template for regular PCR amplification. This is especially useful for detecting RNA viruses like SARS-CoV-2, influenza, and HIV, and for studying gene expression.

A positive PCR result indicates that the genetic material of the target pathogen was detected in the sample. However, it does not always mean active infection PCR can detect fragments of dead or non-infectious pathogens. Clinical context, symptoms, and the Ct (cycle threshold) value help determine clinical significance. A low Ct value generally indicates a higher viral or bacterial load.

PCR can remain positive for weeks after recovery because it detects remnants of dead viral material so a repeat PCR is not typically used to confirm recovery. Instead, your doctor will rely on your symptoms clearing up and the time elapsed since your positive test. For most respiratory infections, guidance is based on symptom resolution and a defined isolation period rather than a follow-up negative PCR. Ask your doctor what applies to your specific situation.

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