: This SALSA MLPA probemix P095 Aneuploidy is an in vitro diagnostic (IVD)1
or research use only (RUO) assay for the detection of DNA copy number of eight DNA sequences on each of four human chromosomes (13, 18, 21, X) and four sequences on chromosome Y as a means to detect an aneuploidy for one of these chromosomes in prenatal and postnatal DNA samples. Purified DNA from prenatal samples should be from (1) (un)cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, (2) (un)cultured chorionic villi free from maternal contamination, or (3) fetal blood. Purified DNA from postnatal samples should be from blood or buccal swabs. This probemix can be used for initial diagnosis or confirmation of results from other techniques. This probemix cannot distinguish between normal females (46,XX) and triploidy females (69,XXX). The results of this test should be interpreted by a clinical molecular geneticist or equivalent.
Please note that this probemix is for In Vitro Diagnostic use (IVD) in the countries specified at the end of this product description. In all other countries, the product is for Research Use Only (RUO).
: Germline aneuploidy of a complete chromosome usually results in a miscarriage. The most common cases of an abnormal chromosome copy number at birth concern the presence of an extra chromosome 13, 18 or 21, each resulting in mental retardation and other disorders (Patau, Edwards, Down syndromes), or the presence of an extra or missing sex chromosome (e.g. X0, XXY, XYY) - with much less severe consequences (Turner, Triple X, Klinefelter, and XYY syndromes). Full trisomies account for the majority of cases, while a minority results from partial chromosome duplications or mosaicism.
Methods used to detect aneuploidies include karyotyping, FISH, quantitative PCR (in particular QF-PCR of short tandem repeats), MLPA, (array)-CGH, and high throughput sequencing. Aneuploidies can be diagnosed prenatally in samples from amniotic fluid, chorionic villi, fetal blood or from free circulating fetal DNA in the maternal plasma (NIPD). For analysis of postnatal samples, blood or buccal swab derived DNA is commonly used.
More information on aneuploidies is available in http://en.wikipedia.org/wiki/Aneuploidies
. See below for several publications on probemix P095 Aneuploidy and several reviews comparing the different methods for aneuploidy testing.
: This SALSA MLPA probemix P095 Aneuploidy contains 36 MLPA probes with amplification products between 136 and 454 nt: eight probes for each chromosome 13, 18, 21, and X; and four probes for the Y chromosome. More information is present in Table 2 of this product description.
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com