AneuQuick™ Plus v1.2 is a molecular diagnostic kit based on quantitative fluorescence polymerase chain reaction (QF-PCR), used for prenatal screening and rapid diagnosis of common chromosomal numerical abnormalities 13, 18, 21, X, and Y, as well as deletions, point mutations, or gene conversion in exon 7 of the SMN1 and SMN2 genes in spinal muscular atrophy (SMA). In fact, this kit can detect not only chromosomal abnormalities such as Down syndrome (or trisomy 21), Edwards syndrome (or trisomy 18), Patau syndrome (or trisomy 13), Klinefelter syndrome (XXY), Triple X syndrome (XXX), monosomy X (Turner syndrome), and other sex chromosome abnormalities but also diagnose 5q SMA.
The AneuQuick™ Plus v1.2 kit contains 28 markers (22 STR markers with high heterozygosity, 4 markers for gender determination and sex chromosome abnormalities, and two single nucleotide polymorphism (SNP) polymorphic markers for the SMN1 and SMN2 genes). These SNP markers are added to the KBC AneuQuick™ v3.2 kit for detecting deletions and mutations in the SMN1 and SMN2 genes. Additionally, the 7X marker is a segmental duplication marker included in the kit to differentiate X chromosome monosomy from homozygosity, thus diagnosing Turner syndrome.
It’s worth mentioning that QF-PCR is a diagnostic method, while NIPT is a screening method. Therefore, the AneuQuick™ Plus v1.2 kit serves as a suitable alternative for confirming the test after positive NIPT results.
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