This SALSA MLPA probemix P245 Microdeletion Syndromes-1A is an in vitro diagnostic (IVD)1
or research use only (RUO) assay for the detection of a distinct subset of recurrent microdeletions and microduplications (mentioned in the table below) in human DNA derived from peripheral blood, buccal swab, (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 fetal blood, in order to confirm a cause and clinical diagnosis for developmental delay and/or intellectual disability syndromes.
This probemix has a limited number of probes for each specific chromosomal region and will therefore not detect all possible causes of the syndromes included. Deletions or duplications detected with the P245 Microdeletion Syndromes-1A probemix must be verified by a designated MLPA follow-up probemix or another technique. The results of this test must 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).
|1p36 deletion syndrome
|2p16.1-p15 microdeletion syndrome
|2q23.1 microdeletion/microduplication syndrome
|3q29 microdeletion syndrome
|3q29 microduplication syndrome
|Williams-Beuren duplication syndrome
|9q22.3 microdeletion syndrome
|Witteveen-Kolk*/15q24 microdeletion syndrome
|NF1 microdeletion syndrome
|Koolen-de Vries syndrome
|17q21.31 microduplication syndrome
|22q11.2 microduplication syndrome
|Distal 22q11.2 deletion syndrome
|MECP2 duplication syndrome
*Please note that the SIN3A gene, which has been described as the critical gene in Witteveen-Kolk syndrome, is not covered by the probes in this P245 probemix.
Microdeletion and microduplication syndromes are defined as a group of clinically recognisable disorders characterised by a small (< 5 Mb) deletion or duplication of a chromosomal segment spanning multiple disease genes. The phenotype is the result of haploinsufficiency for specific genes in the critical interval. Clinically well described syndromes, for which the involvement of multiple disease genes has been established or is strongly suspected, include DiGeorge syndrome (22q11 microdeletion), Williams-Beuren syndrome (7q11 microdeletion), Neurofibromatosis type 1 (17q11 microdeletion), Smith-Magenis Syndrome (17p microdeletion) and many more.
Intellectual disability (ID) affects 1-3% of the population and results from extraordinary heterogeneous environmental, chromosomal and monogenic causes. Detailed analysis of the Online Mendelian Inheritance in Man database and literature searches revealed more than a thousand entries for ID, and more than 290 genes involved in clinical phenotypes or syndromes, metabolic or neurological disorders characterised by ID.
The genetic changes of microdeletions/duplications are often not detectable by the current band resolution using routine or high resolution karyotyping (2-5 Mb) but require the application of molecular cytogenetic techniques such as Fluorescence In Situ Hybridisation (FISH), MLPA or array Comparative Genomic Hybridisation (aCGH).
This SALSA MLPA probemix P245 Microdeletion Syndromes-1A contains 50 MLPA probes with amplification products between 130 and 499 nt. The probes detect sequences involved in a distinct subset of microdeletion and microduplication disorders (described above).
This probemix contains ten quality control fragments generating amplification products between 64 and 118 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and two chromosome Y-specific fragments. 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