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P188 22q13

SALSA MLPA Probemix P188 22q13 detects copy number variations in the 22q12 and 22q13 regions.

Specifications

Contents: 46 MLPA probes, including 30 probes for the 22q13 region (of which 4 probes for SHANK3), and 4 probes for the 22q12 region.

Tissue: human genomic DNA.

Application: research on Phelan-McDermid syndrome (PHMDS, also known as 22q13.3 deletion syndrome).

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

P245 Microdeletion Syndromes-1A

Contains a probe for the SHANK3 and RABL2B gene (22q13.33).

P250 DiGeorge

Contains a probe for the ARSA and SHANK3 gene (22q13.33).

P339 SHANK3

Contains probes for the SHANK3 gene (22q13.33) and some flanking probes.

View all

General information

The SALSA MLPA Probemix P188 22q13 is a research use only (RUO) assay for the detection of deletions or duplications in the 22q12 and 22q13 chromosomal regions. A partial 22q13 deletion is associated with the Phelan-McDermid syndrome (22q13.3 deletion syndrome).

The Phelan-McDermid syndrome (PHMDS; OMIM 606232) is characterised by severe expressive language delay and mild intellectual disability. Most patients display hypotonia and normal to accelerated growth. PHMDS, caused by a deletion of 22q13.3 that includes at least part of SHANK3 or a pathogenic variant in SHANK3, is inherited in an autosomal dominant manner. Most cases are however not inherited, but occur de novo. Haploinsufficiency of the SHANK3 gene is likely the cause of the major neurological features associated with PHMDS. Deletion of additional genes probably causes more complex phenotypes in individuals with larger deletions. The most common cause of PHMDS are terminal chromosomal deletions (including SHANK3), which are variable in size: ranging from <50 kb to >9 Mb. Interstitial deletions, intragenic deletions/pathogenic variants in SHANK3, ring chromosomes, and unbalanced translocations have also been described as causes of PHMDS (Phelan et al. 2005).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1198/.

Regulatory status

SALSA MLPA Probemix P188 22q13 is for research use only (RUO) in all territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P188-025R
SALSA MLPA Probemix P188 22q13 – 25 rxn
MLPA
€ 286.00
P188-050R
SALSA MLPA Probemix P188 22q13 – 50 rxn
MLPA
€ 560.00
P188-100R
SALSA MLPA Probemix P188 22q13 – 100 rxn
MLPA
€ 1096.00

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
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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