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P130 CCM mix-1

SALSA MLPA Probemix P130 CCM mix-1 detects copy number variations in the KRIT1 (CCM1) and CCM2 genes, and can be used together with SALSA MLPA Probemix P131 CCM mix-2, which detects copy number variations in the PDCD10 (CCM3) gene and offers additional coverage of KRIT1.

Specifications

Contents: 34 MLPA probes, including 9 probes for KRIT1, and 12 probes for CCM2.

Tissue: human genomic DNA.

Application: research on cerebral cavernous malformations (CCMs).

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

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List Prices Documentation

Key related products

P131 CCM mix-2

Cerebral cavernous malformations (CCM). Contains probes for KRIT1 and PDCD10.

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General information

The SALSA MLPA Probemix P130 and P131 CCM are a research use only (RUO) assay for the detection of deletions or duplications in the KRIT1 (CCM1), CCM2 and PDCD10 (CCM3) genes, which are associated with Cerebral cavernous malformations (CCMs).

Cerebral cavernous malformations (CCMs) are vascular lesions of the brain that may lead to hemorrhage, seizures, and neurologic deficits. Most are linked to loss-of-function mutations in one of the aforementioned genes, that can either occur as sporadic events or are inherited in an autosomal dominant pattern with incomplete penetrance. Familial forms originate from germline mutations, often have multiple intracranial lesions that grow in size and number over time, and cause an earlier and more severe presentation.

The KRIT1 gene (20 exons) spans ~47 kb of genomic DNA and is located on 7q21.2, ~92 Mb from the p-telomere. The CCM2 gene (11 exons) spans ~76 kb of genomic DNA and is located on 7p13, ~45 Mb from the p-telomere. The PDCD10 gene (9 exons) spans ~51 kb of genomic DNA and is located on 3q26.1, 167 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1116/.

Regulatory status

SALSA MLPA Probemix P130 CCM mix-1 is for research use only (RUO) in all territories.

Product documentation

Version A5

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P130-025R
SALSA MLPA Probemix P130 CCM mix-1 – 25 rxn
MLPA
€ 296.00
P130-050R
SALSA MLPA Probemix P130 CCM mix-1 – 50 rxn
MLPA
€ 580.00
P130-100R
SALSA MLPA Probemix P130 CCM 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

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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