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P257 TERT-DKC1

SALSA MLPA Probemix P257 TERT-DKC1 detects copy number variations in the DKC1, TERT and TERC genes.

Specifications

Contents: 47 MLPA probes, including 16 probes for DKC1 (covering all exons), 16 probes for TERT, and 4 probes for the TERC region.

Tissue: human genomic DNA.

Application: research on dyskeratosis congenita (DC).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P257 TERT-DKC1 is a research use only (RUO) assay for the detection of deletions or duplications in the DKC1, TERT and TERC genes, which are associated with dyskeratosis congenita.

Dyskeratosis congenita (DC) is characterised by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer (Dokal 2011). While DC exhibits marked clinical and genetic heterogeneity, the wide range of disease manifestations caused by this syndrome have a defective telomere maintenance in common. DC is caused by mutations is several genes, three of which are covered by the P257 TERT-DKC1 probemix, with the mode of inheritance varying by gene. X-linked recessive DC (~25% of DC) is characterized by mutations in the DKC1 gene (Dokal et al. 2015), which encodes dyskerin, a component of H/ACA small nucleolar ribonucleoprotein (snoRNP) particles (Dokal 2011). Mutations in TERC, the RNA component, and TERT, the enzymatic component of telomerase, each constitute ~5% of all DC cases (Dokal et al. 2015). Whereas TERC mutations lead to autosomal dominant DC, TERT mutations can lead to either autosomal dominant or autosomal recessive DC. DC has a prevalence of 1 in a million, and 90% of all mutations leading to this syndrome come from single nucleotide variants, although deletions (4.8%) and duplications (2%) have also been observed (AlSabbagh 2020).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK22301/.

Regulatory status

SALSA MLPA Probemix P257 TERT-DKC1 is for research use only (RUO) in all territories.

Product documentation

Version A3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P257-025R
SALSA MLPA Probemix P257 TERT-DKC1 – 25 rxn
MLPA
€ 286.00
P257-050R
SALSA MLPA Probemix P257 TERT-DKC1 – 50 rxn
MLPA
€ 560.00
P257-100R
SALSA MLPA Probemix P257 TERT-DKC1 – 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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