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P321 VPS13B mix 1

SALSA MLPA probemixes P321 VPS13B mix 1 and P322 VPS13B mix 2 detect copy number variations in the VPS13B gene.

Specifications

Contents: P321 VPS13B mix 1 and P322 VPS13B mix 2 together contain 88 MLPA probes, including 68 probes for VPS13B, and a probe for VPS13B c.3348_3349delCT.

Tissue: human genomic DNA.

Application: research on Cohen syndrome.

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

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List Prices Documentation

Key related products

P322 VPS13B mix 2

Cohen syndrome. Contains probes for VPS13B.

View all

General information

The SALSA MLPA Probemix P321/P322 VPS13B is a research use only (RUO) assay for the detection of deletions or duplications in the VPS13B gene, which is associated with Cohen syndrome. The P321 probemix can also be used to detect the presence of 2-bp (CT) deletion (c.3348_3349delCT/C1117fs).

Cohen syndrome is a rare autosomal recessive disorder that is overrepresented in the Finnish and Amish population. The phenotype consists of nonprogressive mild to severe psychomotor retardation, motor clumsiness, microcephaly, characteristic facial features, childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated neutropenia and a cheerful disposition. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair, and low hairline. Defects in the vacuolar protein sorting 13 homolog B (VPS13B) gene are the main cause of Cohen syndrome.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1482/.

Regulatory status

SALSA MLPA Probemix P321 VPS13B mix 1 is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD081 is an artificial DNA sample with a signal for all probes in the P321 VPS13B mix 1 probemix. Inclusion of a reaction with SD081 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD081 is included with every order of the P321 VPS13B mix 1 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P321-025R
SALSA MLPA Probemix P321 VPS13B mix 1 – 25 rxn
MLPA
€ 296.00
P321-050R
SALSA MLPA Probemix P321 VPS13B mix 1 – 50 rxn
MLPA
€ 580.00
P321-100R
SALSA MLPA Probemix P321 VPS13B mix 1 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD081
SALSA Binning DNA SD081 – 6 rxn
MLPA
€ 25.00

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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