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SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3

Loeys-Dietz syndrome (LDS); Thoracic aortic disease, heritable (HTAD); Marfan syndrome

Region: TGFBR1 9q22.33; TGFBR2 3p24.1; TGFB2 1q41; SMAD3 15q22.33

MLPA | Improved
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/.

This product is not CE/FDA registered for use in diagnostic procedures. The SALSA® MLPA® technique is covered by US patent 6,955,901 and corresponding patents outside the US. The purchase of this product includes a license to use only this amount of product solely for the purchaser’s own use.

Probemix content
P148-C1 TGFBR1-TGFBR2-TGFB2-SMAD3 contains 44 MLPA probes with amplification products between 129 and 490 nucleotides (nt). This includes ten probes for TGFBR1, nine probes for TGFBR2, six probes for TGFB2 and nine probes for SMAD3. In addition, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P148-025R
SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 – 25 rxn
€ 286.00
P148-050R
SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 – 50 rxn
€ 560.00
P148-100R
SALSA MLPA Probemix P148 TGFBR1-TGFBR2-TGFB2-SMAD3 – 100 rxn
€ 1096.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6152.00

Related Products

SALSA MLPA Probemix 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.

SALSA MLPA Probemix 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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Improvements

Probes for TGBR2 and SMAD3 have been added and one TGFBR1 probe has been removed, in addition five r