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P470 NCL

SALSA MLPA Probemix P470 NCL detects copy number variations in the PPT1, TPP1, CLN3, CLN6 and CLN8 genes.

Specifications

Contents: 50 MLPA probes, including 9 probes for PPT1, 12 probes for TPP1, 16 probes for CLN3, 2 probes for CLN6, and 2 probes for CLN8.

Tissue: human genomic DNA.

Application: research on neuronal ceroid lipofuscinosis (NCLs).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P470 NCL is a research use only (RUO) assay for the detection of deletions or duplications in the PPT1, TPP1, CLN3, CLN6, and CLN8 genes, which are associated with Neuronal Ceroid Lipofuscinoses (NCLs).

NCLs are a heterogeneous group of inherited neurodegenerative disorders with autosomal recessive inheritance. They are characterised by the accumulation of autofluorescent hydrophobic material in the cytoplasm of neurons and other cell types. NCLs are divided in several subtypes, based on age of onset, clinical course and structure of the storage material. Some of the clinical features are visual impairment, progressive myoclonic epilepsy and cognitive decline leading to progressive neurodegeneration and premature death.

Three typical forms, the infantile (INCL), late-infantile (LINCL), and juvenile (JNCL), are among the most common childhood-onset neurodegenerative disorders. They result from mutations in the genes PPT1 (CLN1 locus), TPP1 (CLN2 locus), and CLN3, respectively. The most common known deletion is a 1.02-kb deletion in CLN3, causing JNCL (also known as Batten disease). The International Batten Disease Consortium (1995) demonstrated that 73% of Batten disease cases are caused by this 1.02-kb deletion covering exons 7 and 8 of CLN3. In Finland, 90% of patients with Batten disease carry the 1.02-kb deletion (Järvelä et al., 1996). Other CLN genes, like CLN6 and CLN8, have also been identified to cause a (more rare) form of NCL.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1428/.

Regulatory status

SALSA MLPA Probemix P470 NCL is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P470-025R
SALSA MLPA Probemix P470 NCL – 25 rxn
MLPA
€ 286.00
P470-050R
SALSA MLPA Probemix P470 NCL – 50 rxn
MLPA
€ 560.00
P470-100R
SALSA MLPA Probemix P470 NCL – 100 rxn
MLPA
€ 1096.00

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
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

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 (A1) version of this product.

  • Coriell NA03184: Heterozygous duplication affecting the probes for CLN6 on chromosome 15.
  • Coriell NA05875: Heterozygous deletion affecting the probes for CLN3 on chromosome 16.
  • Coriell NA20381: Heterozygous deletion affecting the probes for CLN3 Exon 7-8 on chromosome 16.

Resources

General MLPA resources

MLPA education

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