QF-PCR analysis

What is it?

QF-PCR analysis

The quantitative fluorescence polymerase chain reaction (QF-PCR) technique allows rapid detection (in 24–48 h) of alterations in the number of chromosomes 13, 18, 21, X, and Y. Unlike karyotyping, it cannot detect alterations in other chromosomes, nor does it tell us what chromosomal alteration underlies the aneuploidy, and so it is recommended that both these tests be carried out in parallel.

Given the speed of this test, it is recommended in the case of a clear suspicion of a syndrome (for example, the presence of ultrasound markers highlighted by biochemical screening or a high risk of trisomy 21) or to confirm a high-risk result obtained by prenatal genetic maternal blood screening.

How does it work?

Prenatal QF-PCR studies are performed on foetal genetic material, which must be collected through an invasive technique. Either desquamated foetal cells collected from amniotic fluid or cells obtained from a chorionic villus biopsy are used.

Who is it for?

When is it recommended?

Performing QF-PCR is recommended in cases of suspected trisomies 13, 18, or 21, or sex chromosome aneuploidies when:

There is a high risk for these alterations in the maternal blood prenatal genetic testing.
Ultrasound markers related to the presence of these alterations (for example, elevated nuchal translucency) are detected.
Biochemical screening produces a high-risk result.

QF-PCR analysis can diagnostically confirm trisomies 13, 18, and 21 or aneuploidies of the sex chromosomes within 24–48 h.

Benefits

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What is it?

QF-PCR analysis

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