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P258 SMARCB1

SALSA MLPA Probemix P258 SMARCB1 detects copy number variations in the SMARCB1 gene.

Specifications

Contents: 42 MLPA probes, including 18 probes for the SMARCB1 region (covering all exons).

Tissue: human genomic DNA, including DNA from FFPE tissue.

Application: research on malignant rhabdoid tumours (MRTs).

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

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Key related products

P250 DiGeorge

Contains more probes in the 22q11 region.

P324 22q11

Contains more probes in the 22q11 region.

P455 LZTR1

Contains probes for LZTR1 gene. Alterations in LZTR1 are associated with schwannomatosis.

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General information

The SALSA MLPA Probemix P258 SMARCB1 is a research use only (RUO) assay for the detection of deletions or duplications in the SMARCB1 gene, inactivation of which has been associated with malignant rhabdoid tumours (MRTs). Rhabdoid tumours are a highly malignant group of neoplasms that usually occur in children under two years of age. MRTs of the kidney were first identified as a sarcomatous variant of Wilms tumours (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumours were reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumours of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumours may be pure rhabdoid tumours or a variant that has been designated atypical teratoid/rhabdoid tumour (AT/RT) (Zin et al., 2021).

Germline alterations in SMARCB1 have also been associated with several genetic syndromes, including Coffin-Siris Syndrome 3 and SMARCB1-related schwannomatosis (Plotkin et al., 2022). Coffin-Siris Syndrome 3 (CSS3) is a congenital malformation syndrome characterized by developmental delay and intellectual disability, among other variable features. Patients with SMARCB1 alterations may have more severe neurodevelopmental deficits and structural brain abnormalities (Kosho et al., 2014). SMARCB1-related schwannomatosis (SWN) is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas. Affected individuals may also present multiple meningiomas. Individual schwannoma tumours from patients with schwannomatosis have been found to harbour somatic mutations in SMARCB1 (Sestini et al., 2008).

The protein encoded by the SMARCB1 gene (also known as INI1 or SNF5) is a core component of the SWI/SNF complex which is actively involved in remodelling chromatin structures, allowing the transcriptional machinery to access its targets more effectively. This ATP-dependent chromatin-remodelling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation (Kalimuthu et al., 2016).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK469816/

Regulatory status

SALSA MLPA Probemix P258 SMARCB1 is for research use only (RUO) in all territories.

Product documentation

Version C2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P258-025R
SALSA MLPA Probemix P258 SMARCB1 – 25 rxn
MLPA
€ 296.00
P258-050R
SALSA MLPA Probemix P258 SMARCB1 – 50 rxn
MLPA
€ 580.00
P258-100R
SALSA MLPA Probemix P258 SMARCB1 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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 (C2) version of this product.

  • Coriell NA02325, Coriell NA07106: Heterozygous duplication affecting the probes for TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1, SNRPD3, SEZ6L and NIPSNAP1.
  • DSMZ ACC-808 (KP-363T): Heterozygous deletion affecting the probes for TBX1, DGCR8, SNAP29, LZTR1, PPIL2, GNAZ, SMARCB1, SNRPD3, SEZ6L and NIPSNAP1. Some of the reference probes are affected by CNAs.

Resources

General MLPA resources

MLPA education

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