QFPCR Basic (T13,18,21,X,Y)

QF-PCR (T13, T18, T21 & X, Y) – Test Overview

Test Name: QF-PCR (Quantitative Fluorescent Polymerase Chain Reaction) for Trisomy 13, 18, 21 & Sex Chromosomes (X, Y)

Sample Type: Amniotic Fluid / Chorionic Villus Sample (CVS) / Fetal Tissue (as advised)

Department: Molecular Genetics

Method: Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR)

About the Test

QF-PCR is a rapid molecular genetic test used for the detection of common chromosomal aneuploidies in prenatal samples. The test analyzes chromosomes 13, 18, 21, X, and Y to identify numerical abnormalities that may lead to genetic disorders and chromosomal syndromes. It provides faster results compared to conventional karyotyping and is commonly used in prenatal diagnosis.

Conditions Detected

• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards Syndrome)
• Trisomy 13 (Patau Syndrome)
• Sex Chromosome Aneuploidies (e.g., Turner Syndrome, Klinefelter Syndrome, XYY Syndrome, Triple X Syndrome)

When is the Test Recommended?

• Positive or high-risk prenatal screening results
• Abnormal fetal ultrasound findings
• Advanced maternal age
• Family history of chromosomal abnormalities
• Confirmation of suspected fetal aneuploidy

Benefits

• Rapid turnaround time
• High accuracy for common aneuploidies
• Detects fetal sex chromosomes (X and Y)
• Reduces parental anxiety by providing early diagnostic information
• Can be performed on prenatal samples without the need for lengthy cell culture in many cases

Interpretation

A normal result indicates no evidence of aneuploidy involving chromosomes 13, 18, 21, X, or Y. An abnormal result suggests the presence of an extra or missing chromosome and should be interpreted alongside genetic counseling and confirmatory testing when required.

Turnaround Time

3–7 Days (may vary depending on sample type and laboratory workflow).