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P339 SHANK3

SALSA MLPA Probemix P339 SHANK3 detects copy number variations in the SHANK3 gene.

Specifications

Contents: 44 MLPA probes, including 30 probes for SHANK3.

Tissue: human genomic DNA.

Application: research on Phelan-McDermid syndrome and autism spectrum disorder (ASD).

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

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List Prices Documentation

Key related products

P188 22q13

Contains numerous probes in the 22q13 region.

P250 DiGeorge

Contains numerous probes in the 22q11 region.

View all

General information

The SALSA MLPA Probemix P339 SHANK3 is a research use only (RUO) assay for the detection of deletions or duplications in the SHANK3 gene, which is associated with Phelan-McDermid syndrome and autism spectrum disorder (ASD).

SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of synapses. Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), which is characterized by severe expressive language and speech delay, hypotonia, global developmental delay, and autistic behaviour. Since several SHANK3 mutations have been identified in a particular phenotypic group in patients with ASD, SHANK3 is strongly suspected of being involved in the pathogenesis and neuropathology of ASD.

Warning: All SHANK3 probes are located in an extremely GC-rich chromosomal area. Such CpG islands are more difficult to denature than the rest of the human genome. The presence of salt in DNA samples can result in incomplete denaturation of these CpG islands, which may result in false positive results: apparent deletions of several consecutive SHANK3 probes, while reference probes are normal. Such false positive results are even more likely when DNA has been extracted by the Qiagen EZ1, M48 or M96 systems, as these leave a higher salt concentration in the sample. High salt concentrations can also be due to evaporation (dried out samples; SpeedVac concentration).

Most severely affected will be probes for exons 11-17; see figure 1 on page 4 of the Product Description. In particular, any deletions that include exons 11-13 should be treated with caution (be aware that the exon numbering has been adjusted in this Product description version B2-02).

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

Regulatory status

SALSA MLPA Probemix P339 SHANK3 is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P339-025R
SALSA MLPA Probemix P339 SHANK3 – 25 rxn
MLPA
€ 286.00
P339-050R
SALSA MLPA Probemix P339 SHANK3 – 50 rxn
MLPA
€ 560.00
P339-100R
SALSA MLPA Probemix P339 SHANK3 – 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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