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SALSA MLPA Probemix P124 TSC1

SALSA® MLPA® Probemix P124 TSC1 detects copy number variations in the TSC1 gene.

Specifications

Contents: 32 MLPA probes, including 23 probes for TSC1.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: tuberous sclerosis complex (TSC).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

SALSA MLPA Probemix P046 TSC2

This probemix contains probes for the TSC2 gene.

SALSA MLPA Probemix P337 TSC2 Confirmation

Contains more probes for the TSC2 gene. This probemix can be used for confirmation of obtained P046 results.

SALSA MLPA Probemix P351 PKD1

These probemixes contain probes for the PKD1 and PKD2 genes.

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Intended purpose

The SALSA MLPA Probemix P124 TSC1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the TSC1 gene in genomic DNA isolated from human peripheral whole blood specimens. P124 TSC1 is intended to confirm a potential cause for and clinical diagnosis of tuberous sclerosis complex (TSC) and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Tuberous sclerosis complex (TSC) is a genetic disorder characterised by seizures and intellectual disability/developmental delay, and by abnormalities of the skin, brain, kidney, heart, and lungs. Central nervous system tumours are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. The diagnosis of TSC is based on clinical findings and affects approximately 1 in 6000 live births worldwide. Prevalence is estimated to be 1 in 11.300-25.000 in Europe. TSC is inherited in an autosomal dominant manner and is caused by mutations in either the TSC1 or TSC2 gene.

TSC2 mutations account for the majority (~69%) of all TSC patients as compared to TSC1 mutations (~26%). TSC2 mutations appear to be more common in sporadic TSC cases, while inherited cases result from TSC1 and TSC2 mutations in a nearly equal proportion. Presently, more than 450 different disease-causing mutations are known for TSC1 and more than 1300 are known for TSC2. Truncating mutations are the most common mutation type in the TSC1 (80%) and the TSC2 (65%) genes. Large genomic deletions are rare in TSC1 (3%), but occur more frequently in the TSC2 gene (5%). The frequency of somatic mosaicism for large deletions and duplications in the TSC1 and TSC2 genes in affected individuals with TSC has been reported as ~5% (Kozlowski et al. 2007) up to 10-25% (Jang et al. 2012).

More information is available on https://www.ncbi.nlm.nih.gov/books/NBK1220/.

Regulatory status

SALSA MLPA Probemix P124 TSC1 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P124-025R
SALSA MLPA Probemix P124 TSC1 – 25 rxn
MLPA
€ 281.00
P124-050R
SALSA MLPA Probemix P124 TSC1 – 50 rxn
MLPA
€ 550.00
P124-100R
SALSA MLPA Probemix P124 TSC1 – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

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 have been tested with the current (C3) version of this product and have been shown to produce useful results.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P124 TSC1

  • Babol-Pokora K et al. (2021). A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. Eur J Med Genet. 64:104309.
  • Demir S et al. (2021). Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants. Balkan Med J. 38:341-7.
  • Giugliano T et al. (2019). Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. Genes (Basel). 10:580.
  • Lee JS et al. (2014). Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy. Epileptic Disord. 16:449-55.
  • Ogórek B et al. (2020). TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med. 22:1489-97.
  • Reyna-Fabián ME et al. (2020). First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants. Sci Rep. 10:6589.
  • Van den Ouweland AMW et al. (2011). Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. Eur J Hum Genet. 19:157-63.

References

  • Kozlowski P et al. (2007). Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. 121:389-400.
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Choose your country to see the products for your location

CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

IL

IVD-registered in Israel.