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P353 CMT4

SALSA MLPA Probemix P353 CMT4 detects copy number variations in the GDAP1, MTMR2, SBF2, SH3TC2, EGR2, PRX and NEFL genes.

Specifications

Contents: 49 MLPA probes including 40 probes for all exons of the NEFL and PRX genes, and several exons of the GDAP1, MTMR2, SBF2, SH3TC2, and EGR2 genes.

Tissue: human genomic DNA.

Application: research on Charcot-Marie-Tooth neuropathy type 1F (CMT1F), 2E (CMT2E), and 4 (CMT4).

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

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General information

The SALSA MLPA Probemix P353 CMT4 is a research use only (RUO) assay for the detection of deletions or duplications in the GDAP1, MTMR2, SBF2, SH3TC2, EGR2, and PRX genes, which are associated with Charcot-Marie-Tooth neuropathy type 4 (CMT4). In addition, this probemix contains probes for the NEFL gene, which is involved in CMT type 1F and 2E.

CMT4 is a group of progressive motor and sensory axonal and demyelinating neuropathies, which is inherited in an autosomal recessive manner. It is characterised by distal muscle weakness and atrophy that is associated with sensory loss and foot deformity. CMT4 is classified into 9 different subtypes (CMT4A to CMT4J). This probemix contains a selection of six genes that are correlated with one of the different subtypes.

The GDAP1 gene (6 exons) spans ~17 kb of genomic DNA and is located on 8q21.11, 75 Mb from the p-telomere. The GDAP1 gene encodes a member of the ganglioside-induced differentiation associated protein which is abundantly expressed in brain tissue. CMT4A and intermediated forms of the disorder are caused by mutations in the GDAP1 gene. This probemix contains one probe for each exon, with the exception of exon 3.

The MTMR2 gene (15 exons) spans ~91 kb of genomic DNA and is located on 11q21, 95 Mb from the p-telomere. The MTMR2 gene encodes a protein that belongs to the myotubularin family. CMT4B1 is caused by mutations in the MTMR2 gene. This probemix contains six probes for this gene.

The SBF2 gene (40 exons) spans ~515 kb of genomic DNA and is located on 11p15.4, 10 Mb from the p-telomere. The SBF2 gene encodes a member of the myotubularin-related protein family. Defects in the SBF2 gene are the cause of CMT4B2. This probemix contains eight probes for this gene.

The SH3TC2 gene (17 exons) spans ~81 kb of genomic DNA and is located on 5q33.1, 148 Mb from the p-telomere. The gene encodes the SH3TC2 protein which is expressed in Schwann cells of the peripheral nerves. Defects in the SH3TC2 gene are the cause of CMT4C. This probemix contains seven probes for this gene.

The EGR2 gene (4 exons) spans ~4 kb of genomic DNA and is located on 10q21.2, 64 Mb from the p-telomere. The gene encodes a member of the early growth response family of proteins, and functions as a transcription factor. Defects in the EGR2 gene are the cause of CMT4E and CMT1D. This probemix contains one probe for each exon, with the exception of exon 3.

The PRX gene (7 exons) spans ~20 kb of genomic DNA and is located on 19q13.2, 46 Mb from the p-telomere. The gene encodes for 2 isoforms, L- and S-periaxin, which are structural proteins required for the maintenance of myelin. CMT4F is caused by mutations in the PRX gene. This probemix contains one probe for each exon of this gene.

This probemix furthermore contains probes for all four exons of the NEFL gene. The NEFL gene spans ~6 kb of genomic DNA and is located on 8p21.2, 25 Mb from the p-telomere. The gene encodes the light chain neurofilament protein. Defects in the NEFL gene are the cause of CMT1F and CMT2E.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1468/.

Regulatory status

SALSA MLPA Probemix P353 CMT4 is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P353-025R
SALSA MLPA Probemix P353 CMT4 – 25 rxn
MLPA
€ 286.00
P353-050R
SALSA MLPA Probemix P353 CMT4 – 50 rxn
MLPA
€ 560.00
P353-100R
SALSA MLPA Probemix P353 CMT4 – 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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