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SALSA® MLPA® Probemix P064 Microdeletion Syndromes-1B detects a subset of recurrent microdeletions and microduplications.
Contents: 52 MLPA probes targeting various chromosomal regions involved in microdeletion and microduplication syndromes.
Tissue: genomic DNA isolated from human peripheral whole blood, buccal swabs or specified prenatal samples (see Intended Purpose).
Application: developmental delay, intellectual disability and/or congenital anomalies. See full list of syndromes in the Intended Purpose.
CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.
The SALSA MLPA Probemix P064 Microdeletion Syndromes-1B is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of a distinct subset of recurrent microdeletions and microduplications (mentioned in the table below) in genomic DNA isolated from human peripheral whole blood, buccal swabs, (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 specimens. P064 Microdeletion Syndromes-1B is intended to confirm a potential cause for and clinical diagnosis of developmental delay, intellectual disability and/or congenital anomalies.
Syndromes that can be detected by the P064 probemix | |||
---|---|---|---|
Syndrome | Genetic locus | OMIM | Number of probes |
1p36 deletion syndrome | 1p36 | 607872 | 4 |
Wolf-Hirschhorn syndrome | 4p16.3 | 194190 | 4 |
Cri-du-Chat syndrome | 5p15 | 123450 | 5 |
Sotos syndrome | 5q35.3 | 117550 | 3 |
Saethre-Chotzen syndrome | 7p21.1 | 101400 | 2 |
Williams-Beuren syndrome | 7q11.23 | 194050 | 3 |
Williams-Beuren duplication syndrome | 7q11.23 | 609757 | |
Trichorhinophalangeal syndrome type 2 | 8q24.11-q24.13 | 150230 | 3 |
WAGR syndrome | 11p13 | 194072 | 3 |
Prader-Willi syndrome | 15q11.2 | 176270 | 4 |
Angelman syndrome | 15q11.2 | 105830 | |
Rubinstein-Taybi syndrome | 16p13.3 | 180849 | 2 |
Miller-Dieker syndrome | 17p13.3 | 247200 | 4 |
Lissencephaly-1 | 17p13.3 | 607432 | |
Smith-Magenis syndrome | 17p11.2 | 182290 | 4 |
Potocki-Lupski syndrome | 17p11.2 | 610883 | |
Alagille syndrome | 20p12.2 | 118450 | 2 |
DiGeorge syndrome | 22q11.21 | 188400 | 7 |
22q11.2 microduplication syndrome | 22q11.2 | 608363 | |
Phelan-McDermid syndrome | 22q13 | 606232 | 2 |
For the full intended purpose, see the product description.
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 one or multiple disease genes. The phenotype is the result of haploinsufficiency or overexpression of 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), Smith-Magenis Syndrome (17p microdeletion) and many more. Most patients with microdeletion/microduplication syndromes present with intellectual disability (ID), developmental delay (DD), congenital abnormalities and/or dysmorphic features.
Intellectual disability and developmental delay 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 (OMIM) database and literature searches revealed more than a thousand entries for ID and DD, and more than 290 genes involved in clinical phenotypes or syndromes, metabolic or neurological disorders characterised by ID/DD.
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).
SALSA MLPA Probemix P064 Microdeletion Syndromes-1B is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Israel.
This assay is for research use only (RUO) in all other territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
The commercially available positive samples below have been tested with the current (C2) version of this product and have been shown to produce useful results.