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P154 GPC3-GPC4

SALSA MLPA Probemix P154 GPC3-GPC4 detects copy number variations in the GPC3 and GPC4 genes.

Specifications

Contents: 37 MLPA probes, including 16 probes for GPC3 (covering all exons), and 10 probes for GPC4 (covering all exons).

Tissue: human genomic DNA.

Application: research on Simpson-Golabi-Behmel syndrome (SGBS) type 1.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P154 GPC3-GPC4 is a research use only (RUO) assay for the detection of deletions or duplications in the GPC3 and GPC4 genes, which are associated with Simpson-Golabi-Behmel syndrome type 1.

Simpson-Golabi-Behmel syndrome (SGBS) type 1 is an X-linked overgrowth syndrome associated with multiple congenital anomalies caused by a mutant X-linked recessive trait. Alternative names are: Bulldog syndrome; dysplasia gigantism syndrome X-linked (DGSX), Golabi-Rosen syndrome, Simpson dysmorphia syndrome (SDYS). SGBS shows a broad spectrum of clinical manifestations, varying from mild forms in carrier females to infantile lethal forms in affected males. The most consistent findings are pre- and postnatal macrosomia, characteristic coarse "bulldog-like" face and a complex assortment of congenital defects affecting the internal organs and skeleton. On some occasions, intellectual disability of variable degree is observed. SGBS is also associated with an increased risk of developing embryonal neoplasia, mostly Wilms and liver tumours. SGBS type 2 is a rarer, more lethal form with different genes involved.

SGBS type 1 is caused by mutations in the glypican 3 (GPC3) and/or glypican 4 (GPC4) genes, both located on chromosome Xq26. Around 43% of GPC3 pathogenic variants is a deletion or duplication. Alternative names for the GPC3 gene are SGBS, SGBS1, SGB and DGSX. The glypicans (GRIPS) are a family of cell surface heparan sulphate proteoglycans that are bound to the cell surface and they may play a role in the control of cell division and growth regulation. Glypicans are anchored to the peripheral membrane through glycosylphosphatidylinositol (GPI) linkage. Deletions in the GPC3 gene have been found in a number of SGBS families supplying evidence that such mutations are responsible for SGBS. Duplication of the GPC4 gene has been described in one SGBS family (Waterson et al. 2010). The tight clustering of GPC3 and GPC4 may be relevant for explaining the variability of the SGBS phenotype.

The GPC3 gene (8 exons) spans ~450 kb of genomic DNA and is located on chromosome Xq26.2, 132 Mb from the p-telomere.

The GPC4 gene (9 exons) spans ~115 kb of genomic DNA and is located on chromosome Xq26.2, centromeric to GPC3.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1219/.

Regulatory status

SALSA MLPA Probemix P154 GPC3-GPC4 is for research use only (RUO) in all territories.

Product documentation

Version C2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P154-025R
SALSA MLPA Probemix P154 GPC3-GPC4 – 25 rxn
MLPA
€ 296.00
P154-050R
SALSA MLPA Probemix P154 GPC3-GPC4 – 50 rxn
MLPA
€ 580.00
P154-100R
SALSA MLPA Probemix P154 GPC3-GPC4 – 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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