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SALSA MLPA Probemix P245 Microdeletion Syndromes-1A

Microdeletion syndromes; Microduplication syndromes

Region: Various

MLPA | CE CR IL MA
Intended purpose
The SALSA MLPA Probemix P245 Microdeletion Syndromes-1A is an in vitro diagnostic (IVD)1 or research use only (RUO) semi-quantitative assay2 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. P245 Microdeletion Syndromes-1A is intended to confirm a potential cause for and clinical diagnosis of 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. Copy number variations (CNVs) detected with the P245 Microdeletion Syndromes-1A probemix must be confirmed by a designated MLPA follow-up probemix or another technique.
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, parental evaluation, 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, pre-implantation testing, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations.

1Please 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).
2To be used in combination with a SALSA MLPA Reagent Kit and Coffalyser.Net analysis software.

Syndrome Genetic locus OMIM
1p36 deletion syndrome 1p36 607872
2p16.1-p15 microdeletion syndrome 2p16.1-p15 612513
2q23.1 microdeletion/microduplication syndrome 2q23.1 156200
Glass syndrome 2q32-q33 612313
3q29 microdeletion syndrome 3q29 609425
3q29 microduplication syndrome 3q29 611936
Wolf-Hirschhorn syndrome 4p16.3 194190
Cri-du-Chat syndrome 5p15 123450
Sotos syndrome 5q35.3 117550
Williams-Beuren syndrome 7q11.23 194050
Williams-Beuren duplication syndrome 7q11.23 609757
Langer-Giedion syndrome 8q24.11-q24.13 150230
9q22.3 microdeletion syndrome 9q22.3 -
DiGeorge syndrome-2 10p13-p14 601362
Prader-Willi syndrome 15q11.2 176270
Angelman syndrome 15q11.2 105830
Witteveen-Kolk*/15q24 microdeletion syndrome 15q24 613406
Rubinstein-Taybi syndrome 16p13.3 180849
Miller-Dieker syndrome 17p13.3 247200
Lissencephaly-1 17p13.3 607432
Smith-Magenis syndrome 17p11.2 182290
Potocki-Lupski syndrome 17p11.2 610883
NF1 microdeletion syndrome 17p11.2 613675
Koolen-de Vries syndrome 17q21.31 610443
17q21.31 microduplication syndrome 17q21.31 613533
DiGeorge syndrome 22q11.21 188400
22q11.2 microduplication syndrome 22q11.2 608363
Distal 22q11.2 deletion syndrome 22q11.2 611867
Phelan-McDermid syndrome 22q13 606232
Rett syndrome Xq28 312750
MECP2 duplication syndrome Xq28 300260

*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.

Clinical background
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 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), Neurofibromatosis type 1 (17q11 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 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).

Probemix content
The SALSA MLPA Probemix P245-B1 Microdeletion Syndromes-1A contains 50 MLPA probes with amplification products between 130 and 499 nucleotides (nt). The probes detect sequences involved in a distinct subset of microdeletion and microduplication disorders (described above). 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.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P245-025R
SALSA MLPA Probemix P245 Microdeletion Syndromes-1A – 25 rxn
€ 243.00
P245-050R
SALSA MLPA Probemix P245 Microdeletion Syndromes-1A – 50 rxn
€ 486.00
P245-100R
SALSA MLPA Probemix P245 Microdeletion Syndromes-1A – 100 rxn
€ 972.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA).

CR

IVD-registered in Costa Rica.

IL

IVD-registered in Israel.

MA

IVD-registered in Morocco.