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SALSA MLPA Probemix P472 SUFU

Nevoid basal cell carcinoma syndrome; Desmoplastic medulloblastoma; Meningioma, familial

Region: SUFU 10q24.32

General information
The SALSA MLPA Probemix P472 SUFU is a research use only (RUO) assay for the detection of deletions or duplications in the SUFU gene, which is associated with Gorlin syndrome and predisposition to several cancer types.

The SUFU gene (OMIM 607035) encodes a component of the Sonic hedgehog (SHH)/Patched (PTCH) signalling pathway. Mutations in the SUFU gene are expected to result in the same clinical phenotype as mutations in the better known PTCH1 gene (OMIM 601309). Screening for the SUFU gene is therefore suggested when the PTCH1 gene is wildtype in patients with clinical basal cell nevus (Gorlin) syndrome (OMIM#109400). Germline mutations in the SUFU gene are suggested to predispose to infant desmoplastic/ nodular medulloblastomas, basal cell carcinomas and meningiomas. This SUFU susceptibility gene shows autosomal dominant inheritance with an incomplete penetrance. In addition to point mutations, both whole SUFU gene duplications and partial SUFU gene deletions have been described (Brugieres et al. 2012; Smith et al. 2014; Kenawy et al. 2019).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1151/

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P472-A1 SUFU contains 30 MLPA probes with amplification products between 121 and 317 nucleotides (nt). This includes 15 probes for the SUFU gene and two probes flanking the SUFU gene. In addition, 13 reference probes are included that target relatively copy number stable regions in meningiomas and medulloblastomas. Complete probe sequences and the identity of the genes detected by the reference probes are available in Table 3 and 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
P472-025R
SALSA MLPA Probemix P472 SUFU – 25 rxn
€ 260.00
P472-050R
SALSA MLPA Probemix P472 SUFU – 50 rxn
€ 510.00
P472-100R
SALSA MLPA Probemix P472 SUFU – 100 rxn
€ 998.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 316.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 316.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1455.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1455.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5590.00

Related Products

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Contains probes for all exons of the NF2 gene, involved in familial meningioma.

SALSA MLPA Probemix P067 PTCH1

Contains probes for all exons of the PTCH1 gene (except for exon 9), involved in basal cell nevus (Gorlin) syndrome.

SALSA MLPA Probemix P225 PTEN

Contains at least two probes for all exons of the PTEN gene, involved in familial meningioma.

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