The SALSA MLPA Probemix P095 Aneuploidy is an in vitro diagnostic (IVD)1
or research use only (RUO) semi-quantitative assay2
for the detection of deletions or duplications 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. For postnatal samples, genomic DNA isolated from human peripheral whole blood specimens or buccal swabs can be used. For prenatal samples, genomic DNA isolated from (un)cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, (un)cultured chorionic villi free from maternal contamination, or foetal blood can be used. P095 Aneuploidy is intended to confirm a potential cause for and clinical diagnosis of Patau, Edwards and Down syndromes (trisomy 13, 18 and 21, respectively) and Turner, Triple X, Klinefelter, 47,XYY syndromes (X/Y chromosome aneuploidies). This probemix cannot distinguish between normal females (46,XX) and triploid females (69,XXX).
Assay results are intended to be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice, including confirmation by alternative methods, clinical genetic evaluation, and counselling, as appropriate. The results of this test should be interpreted by a clinical molecular geneticist or equivalent.
This device is not intended to be used for standalone diagnostic purposes or pre-implantation testing, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations.
Please note that this probemix is for in vitro diagnostic (IVD) use in the countries specified at the end of this product description. In all other countries, the product is for research use only (RUO).
To be used in combination with a SALSA MLPA Reagent Kit and Coffalyser.Net analysis software.
Germline aneuploidy of a complete chromosome is the main cause of spontaneous pregnancy loss. The most common cases of an abnormal chromosome copy number at birth concern the presence of an extra chromosome 13, 18 or 21 (leading to Patau, Edwards and Down syndromes, respectively), each resulting in intellectual disability and various syndromic birth defects. The presence of an extra or missing sex chromosome e.g. X0, XXX, XXY, XYY, results generally in less severe consequences (Turner, Triple X, Klinefelter, and XYY syndromes respectively). Full chromosome gain or loss account for the majority of cases, while a minority results from partial chromosome duplications or mosaicism.
More information can be found on Decipher (http://decipher.sanger.ac.uk/
) and in the references listed at the end of this product description
. For more information about a specific syndrome, the OMIM and Genetics Home Reference databases can be consulted:
Patau syndrome (Trisomy 13)
Edwards syndrome (Trisomy 18)
Down syndrome (Trisomy 21)
Klinefelter syndrome (47,XXY)
This SALSA MLPA probemix P095-A4 Aneuploidy contains 36 MLPA probes with amplification products between 136 and 454 nucleotides (nt). This includes 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. Complete probe sequences are available online (www.mrcholland.com
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