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SALSA MLPA Probemix P138 SLC2A1-STXBP1

SALSA® MLPA® Probemix P138 SLC2A1-STXBP1 detects copy number variations in the SLC2A1 and STXBP1 genes.

Specifications

Contents: 43 MLPA probes including 12 probes for SLC2A1 and 22 probes for STXBP1, covering all 10 and 20 exons, respectively.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: glucose transporter type 1 deficiency syndrome (GLUT1 DS) and STXBP1 encephalopathy with epilepsy (STXBP1-E) including Ohtahara syndrome (OS).

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

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Key related products

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SALSA MLPA Probemix P137 SCN1A

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SALSA MLPA Probemix P166 KCNQ2

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Intended purpose

The SALSA MLPA Probemix P138 SLC2A1-STXBP1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for (1) the detection of deletions or duplications in the SLC2A1 gene in order to confirm a potential cause for and clinical diagnosis of Glucose transporter type 1 deficiency syndrome (GLUT1 DS), and (2) the detection of deletions or duplications in the human STXBP1 gene in order to confirm a potential cause for and clinical diagnosis of STXBP1 Encephalopathy with epilepsy (STXBP1-E) including Ohtahara syndrome (OS). This assay is for use with genomic DNA isolated from human peripheral whole blood specimens.

For the full intended purpose, see the product description.

Clinical background

Glucose transporter type 1 deficiency syndrome (GLUT1 DS; OMIM #606777) is a neurologic disorder with broad phenotypic variability. GLUT1 DS is usually inherited in an autosomal dominant manner, and in very rare cases, it can occur as an autosomal recessive disease. About 10% of the autosomal dominant cases have a clinically affected parent, the remaining 90% results from a de novo heterozygous pathogenic variant. The de novo sporadic mutations may also be the result of germline mosaicism in apparently unaffected parents (Takahashi et al. 2017).

The GLUT1 DS phenotype has been reported as classic (~90%) and non-classic (~10%). The classic phenotype is characterised by infantile-onset seizures (usually between 1-6 months), delayed neurologic development, dysarthria, acquired microcephaly, and movement disorders (ataxia, dystonia, chorea). The non-classic phenotype is milder and is characterised by absence of clinical seizures and frequent paroxysmal dyskinesias (intermittent ataxia, choreoathetosis, dystonia, alternating hemiplegia). More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1430/.

STXBP1 Encephalopathy with epilepsy (STXBP1-E), also known as STXBP1 Encephalopathy or Early infantile epileptic encephalopathy-4 (EIEE4; OMIM #612164), belongs to the genetically heterogeneous group of early infantile epileptic encephalopathy (EIEE) disorders. STXBP1-E is inherited in an autosomal dominant pattern, with most of the cases being the result of a de novo mutation in the STXBP1 gene and with no history of the disorder in their family. However, these de novo sporadic mutations may also be the result of germline mosaicism in apparently unaffected parents (Saitsu et al. 2011).

STXBP1-E is characterised by recurrent seizures with early-onset (from day 1 to 13 years of age in 94% of the cases), global development delay (90% of the cases), abnormal brain function and intellectual disability. Electroencephalography (EEG) abnormalities such as burst suppression pattern and hypsarrhythmia were reported in affected individuals. The most common type of seizures is infantile spasms that consist of involuntary muscles spasms. Several epileptic syndromes have been linked to the STXBP1 gene, such as Ohtahara syndrome (OS; the most common syndrome, with STXBP1 defects being reported in ~20% of OS patients), West syndrome (WS), Lennox-Gastaut syndrome (LGS), Dravet syndrome (not SCN1A-related), classic Rett syndrome (not MECP2-related) and atypical Rett syndrome (not CDKL5-related). OS can develop into WS, this transition is accompanied by changes in the EEG, from suppression burst (OS) to hypsarrhythmia (WS). When progression continues to LGS, a generalized slow spike-wave pattern develops. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK396561/.

Regulatory status

SALSA MLPA Probemix P138 SLC2A1-STXBP1 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 D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P138-025R
SALSA MLPA Probemix P138 SLC2A1-STXBP1 – 25 rxn
MLPA
€ 281.00
P138-050R
SALSA MLPA Probemix P138 SLC2A1-STXBP1 – 50 rxn
MLPA
€ 550.00
P138-100R
SALSA MLPA Probemix P138 SLC2A1-STXBP1 – 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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P138 SLC2A1-STXBP1

  • Hashimoto N et al. (2011). SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome. J Hum Genet. 56:846-51.
  • Leen WG et al. (2010). Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 133:655-70.
  • Parrini E et al. (2017). Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Hum Mutat. 38:216-25.
  • Vermeer S et al. (2007). A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. Dev Med Child Neurol. 49:380-4.

References

  • Saitsu H et al. (2011). Paternal mosaicism of an STXBP1 mutation in OS. Clin Genet. 80:484-8.
  • Takahashi S et al. (2017). Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome. Clin Genet. 91:932-3.
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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.

IL

IVD-registered in Israel.