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P466 CDC73

SALSA MLPA Probemix P466 CDC73 detects copy number variations in the CDC73 gene.

Specifications

Contents: 38 MLPA probes, including 18 probes for CDC73, of which 1 probe for B3GALT2 located in intron 10 of CDC73.

Tissue: human genomic DNA, including DNA from FFPE tissue.

Application: research on hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P466 CDC73 is a research use only (RUO) assay for the detection of deletions or duplications in the CDC73 gene, which is associated with hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial isolated hyperparathyroidism (FIHP) and parathyroid carcinoma.

Germ line inactivating point mutations and deletions of the CDC73 gene (also known as HRTP2) underlie HPT-JT (OMIM: 145001), and CDC73 aberrations are also detected in familial primary hyperparathyroidism (OMIM: 145000). HPT-TJ is an autosomal dominant syndrome, characterized by the predisposition to develop parathyroid adenoma or carcinoma, and by the prevalence to develop malignant neoplastic lesions also in jaw bones, kidneys or uterus. Defects in the tumour suppressor gene CDC73 on chromosome 1q, are identified in approximately 60% of HPT-JT cases (Carpten et al. 2002), and are represented by both intragenic and gross germline deletions of CDC73 (Cascon et al. 2011; Bricaire et al. 2013; Korpi-Hyövälti et al. 2014; Muscarella et al. 2018; Le Collen et al. 2021). Moreover, bi-allelic inactivation or mutations of CDC73 leading to dysfunction of the parafibromin protein have been reported in the majority of sporadic parathyroid carcinomas and also in subsets of parathyroid adenomas (Shattuck et al. 2003; Howell et al. 2003).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK3789/

Regulatory status

SALSA MLPA Probemix P466 CDC73 is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P466-025R
SALSA MLPA Probemix P466 CDC73 – 25 rxn
MLPA
€ 296.00
P466-050R
SALSA MLPA Probemix P466 CDC73 – 50 rxn
MLPA
€ 580.00
P466-100R
SALSA MLPA Probemix P466 CDC73 – 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.

See this support article for commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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