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SALSA MLPA Probemix P245 Microdeletion Syndromes-1A

SALSA® MLPA® Probemix P245 Microdeletion Syndromes-1A detects a subset of recurrent microdeletions and microduplications.

Specifications

Contents: 50 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.

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Key related products

SALSA MLPA Probemix P036 Subtelomeres Mix 1

Contains probes for subtelomeric regions.

SALSA MLPA Probemix P064 Microdeletion Syndromes-1B

Contains probes for 1p36 deletion, Wolf-Hirschhorn, Cri-du-Chat, Sotos, Saethre-Chotzen, Williams-Beuren, Langer-Giedion, WAGR, Prader-Willi/Angelman, Rubinstein-Taybi, Miller-Dieker, Smith-Magenis, Alagille, DiGeorge, and Phelan-McDermid syndrome.

SALSA MLPA Probemix P070 Subtelomeres Mix 2B

Contains probes for subtelomeric regions, and can be used as confirmation probemix of P036.

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Intended purpose

The SALSA MLPA Probemix P245 Microdeletion Syndromes-1A 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. P245 Microdeletion Syndromes-1A 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 P245 probemix
Syndrome Genetic locus OMIM Number of probes
1p36 deletion syndrome 1p36 607872 3
2p16.1-p15 microdeletion syndrome 2p16.1-p15 612513 2
2q23.1 microdeletion/microduplication syndrome 2q23.1 156200 2
Glass syndrome 2q32-q33 612313 2
3q29 microdeletion syndrome 3q29 609425 2
3q29 microduplication syndrome 3q29 611936
Wolf-Hirschhorn syndrome 4p16.3 194190 2
Cri-du-Chat syndrome 5p15 123450 2
Sotos syndrome 5q35.3 117550 2
Williams-Beuren syndrome 7q11.23 194050 2
Williams-Beuren duplication syndrome 7q11.23 609757
Langer-Giedion syndrome 8q24.11-q24.13 150230 2
9q22.3 microdeletion syndrome 9q22.3 - 2
DiGeorge syndrome-2 10p14-p13 601362 1
Prader-Willi syndrome 15q11.2 176270 3
Angelman syndrome 15q11.2 105830
Witteveen-Kolk* / 15q24 microdeletion syndrome 15q24 613406 2
Rubinstein-Taybi syndrome 16p13.3 180849 1
Miller-Dieker syndrome 17p13.3 247200 2
Lissencephaly-1 17p13.3 607432
Smith-Magenis syndrome 17p11.2 182290 3
Potocki-Lupski syndrome 17p11.2 610883
NF1 microdeletion syndrome 17q11.2 613675 2
Koolen-de Vries syndrome 17q21.31 610443 2
17q21.31 microduplication syndrome 17q21.31 613533
DiGeorge syndrome 22q11.21 188400 5
22q11.2 microduplication syndrome 22q11.2 608363
Distal 22q11.2 deletion syndrome 22q11.2 611867
Phelan-McDermid syndrome 22q13 606232 2
Rett syndrome Xq28 312750 3
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.

For the full intended purpose, see the product description.

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 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), 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 (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).

Regulatory status

SALSA MLPA Probemix P245 Microdeletion Syndromes-1A is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Costa Rica and Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P245-025R
SALSA MLPA Probemix P245 Microdeletion Syndromes-1A – 25 rxn
MLPA
€ 281.00
P245-050R
SALSA MLPA Probemix P245 Microdeletion Syndromes-1A – 50 rxn
MLPA
€ 550.00
P245-100R
SALSA MLPA Probemix P245 Microdeletion Syndromes-1A – 100 rxn
MLPA
€ 1075.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00
How to Order

Positive samples

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.

See this support article for commercially available positive samples that have been tested with this product.

Resources

General resources

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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), and the UK.

CR

IVD-registered in Costa Rica.

IL

IVD-registered in Israel.