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P379 NRXN1

SALSA MLPA Probemix P379 NRXN1 detects copy number variations in the NRXN1 gene.

Specifications

Contents: 43 MLPA probes, including 32 probes for NRXN1 (covering all exons of the main transcript variant NM_001135659.2 and an alternative exon in the beta transcript variant NM_138735.4).

Tissue type: human genomic DNA.

Application: research on Pitt-Hopkins-like syndrome.

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

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List Prices Documentation

Key related products

P075 TCF4-FOXG1

Contains probes for the TCF4 and FOXG1 genes, involved in Pitt-Hopkins syndrome.

P297 Microdeletion Syndromes-2

Contains two probes for CNTNAP2.

P343 Autism-1

Contains probes for the regions 15q11-13, 16p11.2 and 22q13.3 (SHANK3), involved in autism.

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General information

The SALSA MLPA Probemix P379 NRXN1 is a research use only (RUO) assay for the detection of deletions or duplications in the NRXN1 gene, which is associated with Pitt-Hopkins-like syndrome 2.

Pitt-Hopkins-like syndrome 2 is characterised by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation/overbreathing. This syndrome is caused by defects in the NRXN1 gene on chromosome 2p16.3. Neurexin 1 protein is encoded by the NRXN1 gene. Neurexins, including Neurexin 1, are cell-surface receptors that bind neuroligins at synapses in the central nervous system. This transsynaptic complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts.

Regulatory status

SALSA MLPA Probemix P379 NRXN1 is for research use only (RUO) in all territories.

Product documentation

Version A2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P379-025R
SALSA MLPA Probemix P379 NRXN1 – 25 rxn
MLPA
€ 296.00
P379-050R
SALSA MLPA Probemix P379 NRXN1 – 50 rxn
MLPA
€ 580.00
P379-100R
SALSA MLPA Probemix P379 NRXN1 – 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.

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

Resources

General MLPA resources

MLPA education

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