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P058 IGHMBP2

SALSA MLPA Probemix P058 IGHMBP2 detects copy number variations in the IGHMBP2 gene.

Specifications

Contents: 25 MLPA probes, including 16 probes for IGHMBP2 (covering all exons).

Tissue: human genomic DNA.

Application: research on spinal muscular atrophy with respiratory distress type 1 (SMARD1).

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

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List Prices Documentation

Key related products

P021 SMA

Spinal Muscular Atrophy (SMA), to determine SMN1 and SMN2 copy number changes (patients).

P060 SMA Carrier

Spinal Muscular Atrophy (SMA) carrier, to determine the SMN1 and SMN2 copy number changes of only exon 7 and 8.

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General information

The SALSA MLPA Probemix P058 IGHMBP2 is a research use only (RUO) assay for the detection of deletions or duplications in the IGHMBP2 gene, which is associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1).

SMARD1, also known as distal spinal muscular atrophy 1 (DSMA1) or distal hereditary motor neuropathies type 6 (dHMN6), is a rare autosomal recessive motor neuron disorder that affects infants and is characterised by diaphragmatic palsy, distal muscular weakness, and muscle atrophy. The disease is caused by mutations in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2).

'Distal' SMA (DSMA1) is distinguished from 'proximal' autosomal recessive spinal muscular atrophy (SMA) by the primary muscles involved. Like the SMN1 gene, which is mutated in SMA, IGHMBP2 colocalises with the RNA-processing machinery in both the cytoplasm and the nucleus. IGHMBP2 and SMN1 share common functions important to motor neuron maintenance and integrity in mammals. IGHMBP2 is the second gene found to be defective in SMA (Grohmann et al. 2001).

Regulatory status

SALSA MLPA Probemix P058 IGHMBP2 is for research use only (RUO) in all territories.

Product documentation

Version A4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P058-025R
SALSA MLPA Probemix P058 IGHMBP2 – 25 rxn
MLPA
€ 286.00
P058-050R
SALSA MLPA Probemix P058 IGHMBP2 – 50 rxn
MLPA
€ 560.00
P058-100R
SALSA MLPA Probemix P058 IGHMBP2 – 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.

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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