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P148 TGFBR1-TGFBR2-TGFB2-SMAD3

SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 detects copy number variations in the TGFBR1, TGFBR2, TGFB2 and SMAD3 genes.
Specifications

Contents: 44 MLPA probes, including 10 probes for the TGFBR1 region, 9 probes for TGFBR2, 6 probes for TGFB2, and 9 probes for SMAD3.

Tissue: human genomic DNA.

Application: research on Loeys-Dietz syndrome (LDS).

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

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List Prices Documentation

Key related products

P065 Marfan Syndrome-1

Contain probes for FBN1 and TGFBR2. The probes for TGFBR2 in this P148 probemix are identical to the TGFBR2 probes in the SALSA MLPA probemixes P065/P066.

P066 Marfan Syndrome-2

Contain probes for FBN1 and TGFBR2. The probes for TGFBR2 in this P148 probemix are identical to the TGFBR2 probes in the SALSA MLPA probemixes P065/P066.

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General information

SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 is a research use only (RUO) assay for the detection of deletions or duplications in the TGFBR1, TGFBR2, TGFB2 and SMAD3 genes, which are associated with Loeys-Dietz syndrome (LDS).

LDS is a connective tissue disorder that can manifest in a variety of ways, amongst others with vascular findings, skeletal manifestations, craniofacial features and cutaneous findings. The severity and nature of symptoms can vary greatly between affected individuals, with significant extravascular systemic findings in young children to predominantly thoracic aortic aneurysm/dissection occurring in adults. LDS individuals were first described with a Marfan syndrome-like phenotype and LDS has some features in common with Marfan syndrome, however LDS and Marfan syndrome are distinct syndromes and have different genetic causes. Pathogenic variants in multiple genes are associated with LDS. The highest proportion of pathogenic variants is found in TGFBR2, followed by TGFBR1, TGFB2 and SMAD3.

The TGFBR1 gene (9 exons) spans ~49 kb of genomic DNA and is located on chromosome 9q22.33, ~101 Mb from the p-telomere.

The TGFBR2 gene (7 exons) spans ~88 kb of genomic DNA and is located on chromosome 3p24.1, ~31 Mb from the p-telomere.

The TGFB2 gene (7 exons) spans ~99 kb and is located on chromosome 1q41, ~217 Mb from the p-telomere.

The SMAD3 gene (9 exons) spans ~130 kb and is located on chromosome 15q22.33, ~65 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1133/.

Regulatory status

SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 is for research use only (RUO) in all territories.

Product documentation

Version C1

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P148-025R
SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 – 25 rxn
MLPA
€ 286.00
P148-050R
SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 – 50 rxn
MLPA
€ 560.00
P148-100R
SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 – 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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