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P319 Thyroid

SALSA MLPA Probemix P319 Thyroid detects copy number variations in the TPO, PAX8, FOXE1, NKX2-1 and TSHR genes.

Specifications

Contents: 50 MLPA probes, including 16 probes for TPO, 9 probes for PAX8, 2 probes for FOXE1, 3 probes for NKX2-1 (covering all exons), and 10 probes for TSHR (covering all exons).

Tissue: human genomic DNA.

Application: research on thyroid dysgenesis (TD).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P319 Thyroid is a research use only (RUO) assay for the detection of deletions or duplications in TPO, PAX8, FOXE1, NKX2-1 and TSHR genes, which are associated with thyroid dysgenesis.

Thyroid dysgenesis (TD) accounts for most cases of congenital hypothyroidism. TD is generally a sporadic disease and in most cases the cause is unknown. Occasional familial occurrence and a difference in prevalence of TD between males vs. females, between ethnicities, and in patients with Down syndrome all suggest genetic factors may play a role in some patients. Mutations in genes playing a role during thyroid morphogenesis (TPO, PAX8, FOXE1, NKX2-1, TSHR amongst others) have been reported.

The TPO gene (17 exons) spans ~129 kb of genomic DNA and is located on 2p25.3, ~1.4 Mb from the p-telomere. The PAX8 gene (10 exons) spans ~63 kb of genomic DNA and is located on 2q13, ~114 Mb from the p-telomere. The FOXE1 gene (1 exon) spans ~4 kb of genomic DNA and is located on 9q22.33, ~100 Mb from the p-telomere. The NKX2-1 gene (3 exons) spans ~4 kb of genomic DNA and is located on 14q13.3, ~36 Mb from the p-telomere. The TSHR gene (10 exons) spans ~191 kb of genomic DNA and is located on 14q31.1, ~81 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK279032/.

Regulatory status

SALSA MLPA Probemix P319 Thyroid 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
P319-025R
SALSA MLPA Probemix P319 Thyroid – 25 rxn
MLPA
€ 286.00
P319-050R
SALSA MLPA Probemix P319 Thyroid – 50 rxn
MLPA
€ 560.00
P319-100R
SALSA MLPA Probemix P319 Thyroid – 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.

The commercially available positive samples below can be used with the current (B2) version of this product.

Chromosome 2

  • Coriell NA10401: Heterozygous duplication affecting the probes for TPO and PAX8.
  • Coriell NA13590: Homozygous duplication affecting the probes for PAX8.

Chromosome 14

Resources

General MLPA resources

MLPA education

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