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P198 FH

SALSA MLPA Probemix FH detects copy number changes in the FH gene.

Specifications

Contents: 19 MLPA probes, including 10 probes for FH (covering all exons).

Tissue: human genomic DNA.

Application: research on FH tumour predisposition syndrome, and FH deficiency.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P198 FH is a research use only (RUO) assay for the detection of deletions or duplications in the fumarate hydratase (FH) gene, which is associated with FH tumour predisposition syndrome and FH deficiency.

FH tumour predisposition syndrome (also known as hereditary leiomyomatosis and renal cell cancer, HLRCC) is an autosomal dominant tumour syndrome characterized by leiomyomas in the skin and uterus. A subset of patients develops renal cell cancer (Smit et al. 2011). In the exceptional case of autosomal recessive inheritance, homozygous FH mutations result in FH deficiency (also known as fumarase deficiency or fumaric aciduria), which causes neonatal and early infantile encephalopathy. FH deficiency is characterized by poor feeding, failure to thrive, hypotonia, lethargy and seizures. FH deficiency is often fatal in early childhood.

The FH gene (10 exons) spans ~22 kb of genomic DNA and is located on chromosome 1q43, about 240 Mb from the p-telomere. The protein encoded by FH is an enzymatic component of the Krebs cycle. It catalyzes the conversion of fumarate to malate.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1252/ (FH tumour predisposition syndrome) and https://www.ncbi.nlm.nih.gov/books/NBK1506/ (FH deficiency).

Regulatory status

SALSA MLPA Probemix P198 FH 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
P198-025R
SALSA MLPA Probemix P198 FH – 25 rxn
MLPA
€ 296.00
P198-050R
SALSA MLPA Probemix P198 FH – 50 rxn
MLPA
€ 580.00
P198-100R
SALSA MLPA Probemix P198 FH – 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.

The commercially available positive samples below can be used with the current (A4) version of this product.

Resources

General MLPA resources

MLPA education

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