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P280 SLC26A4

SALSA MLPA Probemix P280 SLC26A4 detects copy number variations in the SLC26A4 gene.

Specifications

Contents: 38 MLPA probes, including 21 probes for SLC26A4 (covering all exons), and probes for SLC26A4 L236P (c.707T>C), IVS8+1G>A, and T416P (c.1246A>C).

Tissue: human genomic DNA.

Application: research on Pendred syndrome, and autosomal recessive non-syndromic deafness (DFNB4).

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

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General information

The SALSA MLPA Probemix P280 SLC26A4 is a research use only (RUO) assay for the detection of deletions or duplications in the SLC26A4 gene, which is associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4) (Cirello et al. 2018). This probemix can also be used to detect the presence of three point mutations: the L236P (c.707T>C; Exon 6) amino acid substitution mutation, the IVS8+1G>A (Exon 8) donor splice mutation, and the T416P (c.1246A>C; Exon 10) amino acid substitution mutation. These three mutations have been found in several cases of Pendred syndrome (Tsukamoto et al. 2003).

Pendred syndrome is an autosomal recessive disorder that accounts for 4-10% of the cases for hereditary deafness (Tesolin et al. 2021). Besides sensorineural hearing impairment, this syndrome is characterized by the presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis (Royaux et al. 2000). Goiter development (diffuse thyroid enlargement) and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. Mutations in this gene can also cause DFNB4 (Royaux et al. 2000). The SLC26A4 gene (21 exons) spans ~57.2 kb of genomic DNA and is located on chromosome 7q22.3, ~107 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1467/.

Regulatory status

SALSA MLPA Probemix P280 SLC26A4 is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD071 is an artificial DNA sample with a signal for all probes in the P280 SLC26A4 probemix. Inclusion of a reaction with SD071 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 SD071 is included with every order of the P280 SLC26A4 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P280-025R
SALSA MLPA Probemix P280 SLC26A4 – 25 rxn
MLPA
€ 286.00
P280-050R
SALSA MLPA Probemix P280 SLC26A4 – 50 rxn
MLPA
€ 560.00
P280-100R
SALSA MLPA Probemix P280 SLC26A4 – 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

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
SD071
SALSA Binning DNA SD071 – 6 rxn
MLPA
€ 24.15

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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