AneuQuick™ Extra Kit v1.2

The AneuQuick™ Extra Kit v1.2 is a quantitative fluorescence polymerase chain reaction (QF-PCR) molecular diagnostic kit used for prenatal screening and rapid detection of common chromosomal numerical abnormalities.

When the number of chromosomes is not a multiple of 23 (for example, instead of 46 chromosomes, a person has 47 chromosomes), this condition is referred to as chromosomal numerical abnormalities or aneuploidy. The most common aneuploidies are chromosomes 21, and the sex chromosomes X and Y. Other detectable aneuploidies with this kit include trisomies of chromosomes 13 and 18. Chromosomal abnormalities can also be investigated through cytogenetic methods and performing karyotyping, which typically requires at least two weeks for fetal cells to grow and the potential aneuploidy status to be assessed. However, recently, the new molecular method QF-PCR has become significantly prevalent as it can be performed in a shorter time and offers cost-effectiveness and very high accuracy. This method enables precise results within a maximum of 5 hours.

The AneuQuick™ Extra Kit v1.2 contains 32 STR markers from chromosomes 13, 18, 21, X, and Y (21 STR markers with high heterozygosity and 4 markers for gender determination and sex chromosome abnormalities). The 7X and 18X markers are also segmental duplication markers included in the kit to distinguish X chromosome monosomy from homozygosity and to detect Turner syndrome. These STR markers in both versions are simultaneously examined using quantitative fluorescence polymerase chain reaction (QF-PCR).

Segmental duplications or SDs are long DNA sequences with a length of more than 1 kb, which usually have identical sequences (about 90-100%) and are present in several chromosomal regions due to the occurrence of duplication. SDs can be tandem or sporadic, or both interchromosomal or intrachromosomal.

Duplication segmental markers 11/13, 1/18, 18/10, X7/X, 6/21, 2/21 and 1/18 in this kit do not show a diallelic pattern in case of aneuploidy. As a result, by observing the change in their ratio, it is possible to recognize all kinds of chromosomal abnormalities related to chromosomes 13, 18, 21, X and Y.

It is worth mentioning that QF-PCR is a diagnostic method, while NIPT is a screening method. Therefore, the AneuQuick™ Extra v1.2 kit is a suitable alternative for confirming the test after the NIPT results have been positive.