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P133 Kallmann-2

SALSA MLPA Probemix P133 Kallmann-2 detects copy number variations in the FGFR1, GNRHR, KISS1R, GNRH1, NELF, PROK2 and PROKR2 genes.

Specifications

Contents: 40 MLPA probes, including 11 probes for FGFR1, 4 probes for GNRHR, 3 probes for KISS1R, 3 probes for GNRH1, 3 probes for NELF, 4 probes for PROK2, and 2 probes for PROKR2.

Tissue: human genomic DNA.

Application: research on Kallmann syndrome.

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

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Key related products

P132 Kallmann-1

Targets ANOS1 (KAL1), involved in Kallmann syndrome.

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General information

The SALSA MLPA Probemix P133 Kallmann-2 is a research use only (RUO) assay for the detection of deletions or duplications in the FGFR1, GNRHR, KISS1R, GNRH1, NELF, PROK2 and PROKR2 genes, which are associated with Kallmann syndrome.

Kallmann syndrome is a disease of idiopathic hypogonadotropic hypogonadism with anosmia or hyposmia. Defects in several genes can result in a Kallmann syndrome phenotype.

Loss-of-function mutations in FGFR1 underlie Kallmann syndrome 2 (KAL2), whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis. The FGFR1 gene (18 exons) spans ~58 kb of genomic DNA and is located on chromosome 8p12, 38 Mb from the p-telomere. This P133-C3 Kallmann-2 probemix contains 11 probes for 10 of the 18 exons of the FGFR1 gene.

Defects in the KISS1R gene are a possible cause of hypogonadotropic hypogonadism. The KISS1R gene (5 exons) spans ~4 kb of genomic DNA and is located on chromosome 19p13.3, 0.9 Mb from the p-telomere. This probemix contains probes for 3 of the 5 exons of the KISS1R gene.

A candidate gene for the autosomal form of Kallmann syndrome is the NELF (NSMF) gene. The NELF gene (16 exons) spans ~12 kb and is located on chromosome 9q34.3, 137 Mb from the p-telomere. This P133-C3 Kallmann-2 probemix contains probes for 3 of the 16 exons of the NELF gene.

An autosomal recessive form of Kallmann syndrome can be caused by defects in the GNRH1 gene. The GNRH1 gene comprises 3 exons and spans ~5 kb on chromosome 8p21.2, 25 Mb from the p-telomere. Probes for each exon of the GNRH1 gene are included in this probemix.

Defects in the GNRHR gene are a cause of hypogonadotropic hypogonadism without anosmia. The GNRHR gene (3 exons) spans ~19 kb and is located on chromosome 4q13.2, 68 Mb from the p-telomere. Probes for each exon of the GNRHR gene are included in this probemix.

The PROK2 and PROKR2 genes have been implicated in autosomal recessive Kallmann syndrome (Abreu et al. 2008). The PROK2 gene (4 exons) spans 14 kb on chromosome 3p13, 72 Mb from the p-telomere. The PROKR2 gene (3 exons), spans 12 kb and is located on chromosome 20p12.3, 5 Mb from the p-telomere. Probes for each of the four PROK2 exons and for two PROKR2 exons have been included in this P133-C3 probemix.

Regulatory status

SALSA MLPA Probemix P133 Kallmann-2 is for research use only (RUO) in all territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P133-025R
SALSA MLPA Probemix P133 Kallmann-2 – 25 rxn
MLPA
€ 286.00
P133-050R
SALSA MLPA Probemix P133 Kallmann-2 – 50 rxn
MLPA
€ 560.00
P133-100R
SALSA MLPA Probemix P133 Kallmann-2 – 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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