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P116 SGC

SALSA MLPA Probemix P116 SGC detects copy number variations in the SGCA, SGCB, SGCD, SGCG and FKRP genes[RK3.1.

Specifications

Contents: 48 MLPA probes, including 10 probes for SGCA, 6 probes for SGCB, 9 probes for SGCD, 8 probes for SGCG, 4 probes for FKRP (covering all exons of all genes listed), and a probe for FKRP L276I.

Tissue: human genomic DNA.

Application: research on limb-girdle muscular dystrophy (LGMD).

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

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List Prices Documentation

Key related products

P034 DMD Mix 1

Duchenne muscular dystrophy and/or Becker muscular dystrophy, contains probes for the DMD gene.

P035 DMD Mix 2

Duchenne muscular dystrophy and/or Becker muscular dystrophy, contains probes for the DMD gene.

P048 LMNA/MYOT/ZMPSTE24

Contains probes for LMNA, MYOT and CAV3.

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General information

The SALSA MLPA Probemix P116 SGC is a research use only (RUO) assay for the detection of deletions or duplications in the SGCA, SGCB, SGCD, SGCG and FKRP genes, which are associated with Limb-Girdle Muscular Dystrophy. This probemix can also be used to detect the presence of the FKRP L276I point mutation.

Limb-Girdle Muscular Dystrophy (LGMD) is characterised by loss of muscle bulk and strength in patients. The distal muscles are affected late in LGMD, if affected at all. LGMD is typically an inherited disorder, though it may be inherited as a dominant, recessive or X-linked genetic defect. The muscle cells of patients with LGMD cannot properly form the proteins needed for normal muscle function. Defects of different proteins are involved in LGMD, each related to a specific type of muscular dystrophy.

Autosomal recessive LGMD is a genetically heterogeneous disorder. Of the many genes that can result in this disorder, the following genes are present in the P116 SGC probemix:

GeneNumber of exonsNumber of probesLengthLocationDistance from p-telomereLGMD type
SGCA10 exons11 ¬9.9 kb17q21.33~46 MbLGMD2D
SGCB6 exons617.6 kb4q12~52 MbLGMD2E
SGCD9 exons9441 kb5q33.3~156 MbLGMD2F
SGCG8 exons8144 kb13q12.12~23 MbLGMD2C
FKRP4 exons5 §12.5 kb19q13~52 MbLGMD2I

¬ This includes a flanking probe located downstream of the SGCA gene.

§ This includes a probe specific for the FKRP L276I mutation. This probe will only generate a signal when the mutation is present.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1408/.

Regulatory status

SALSA MLPA Probemix P116 SGC is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD030 is an artificial DNA sample with a signal for all probes in the P116 SGC probemix. Inclusion of a reaction with SD030 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD030 is included with every order of the P116 SGC probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P116-025R
SALSA MLPA Probemix P116 SGC – 25 rxn
MLPA
€ 296.00
P116-050R
SALSA MLPA Probemix P116 SGC – 50 rxn
MLPA
€ 580.00
P116-100R
SALSA MLPA Probemix P116 SGC – 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

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD030
SALSA Binning DNA SD030 – 6 rxn
MLPA
€ 25.00

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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