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SALSA MLPA Probemix P046 TSC2

SALSA® MLPA® Probemix P046 TSC2 detects copy number variations in the TSC2 gene. Copy number variations of TSC2 can be confirmed with SALSA® MLPA® Probemix P337 TSC2 Confirmation.

Specifications

Contents: 52 MLPA probes, including 42 probes for TSC2 and 1 probe for PKD1.

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 P124 TSC1

Characterisation of TSC1 deletions/duplications.

SALSA MLPA Probemix P337 TSC2 Confirmation

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

SALSA MLPA Probemix P351 PKD1

This probemix contain probes for the PKD1 gene.

View all

Intended purpose

The SALSA MLPA Probemix P046 TSC2 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the TSC2 gene in genomic DNA isolated from human peripheral whole blood specimens. P046 TSC2 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 genes.

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). Cases of mosaic partial TSC2 gene deletions have been reported (Sampson et al. 1997; Verhoef et al. 1999).

Some affected individuals have features of both TSC, caused by deletion of TSC2, and autosomal dominant polycystic kidney disease (ADPKD), caused by deletion of PKD1. Individuals with the TSC2/PKD1 contiguous gene deletion syndrome are also at risk of developing the complications of ADPKD, which include cystic lesions in other organs (e.g., the liver).

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

Regulatory status

SALSA MLPA Probemix P046 TSC2 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia.

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

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P046-025R
SALSA MLPA Probemix P046 TSC2 – 25 rxn
MLPA
€ 281.00
P046-050R
SALSA MLPA Probemix P046 TSC2 – 50 rxn
MLPA
€ 550.00
P046-100R
SALSA MLPA Probemix P046 TSC2 – 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 (D1) version of this product and have been shown to produce useful results.

  • Coriell NA04520: Heterozygous deletion affecting the probes for TSC2 exon 1-15.
  • Coriell NA06226: Homozygous duplication affecting the probes for TSC2 and PKD1.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P046 TSC2

  • Blasco-Pérez L et al. (2023). An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants. J Mol Diagn. 25:692-701.
  • Ding Y et al. (2021). Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort. Seizure. 91:273-7.
  • 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.
  • Lee JS et al. (2014). Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy. Epileptic Disord. 16:449-55.
  • Lin S et al. (2019). Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes. Seizure. 71:322-7.
  • Meng Y et al. (2021). Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex. J Hum Genet. 66:227-36.
  • Ng SY et al. (2022). Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex. Eur J Med Genet. 65:104573.
  • Ramandi H et al. (2014). TSC2 Deletions and Duplications: A Descriptive Study in Iranian Patients Affected with Tuberous Sclerosis. Am J Mol Biol. 4:48370.
  • Rendtorff ND et al. (2005). Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Hum Mutat. 26:374-83.
  • Rosengren T et al. (2020). Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. Sci Rep. 10:9909.

References

  • Jang MA et al. (2012). Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex. Pediatr Neurol. 46:222-4.
  • 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.
  • Sampson JR et al. (1997). Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet. 61:843-51.
  • Verhoef S et al. (1999). High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet. 64:1632-7.
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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.

CO

IVD-registered in Colombia.