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SALSA MLPA Probemix P178 F8

SALSA® MLPA® Probemix P178 F8 detects copy number variations in the F8 gene.

Specifications

Contents: 43 MLPA probes, including 33 probes for F8 covering all 26 exons.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: hemophilia A (HA).

CE-marked for in vitro diagnostic (IVD) use.

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Intended purpose

The SALSA MLPA Probemix P178 F8 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the F8 gene in genomic DNA isolated from human peripheral whole blood specimens. P178 F8 is intended to confirm a potential cause for and clinical diagnosis of hemophilia A, and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Hemophilia A, one of the most common coagulation disorders, is caused by complete or partial deficiency in factor VIII (FVIII) clotting activity. Depending on the remaining level of FVIII clotting activity, three types of hemophilia A can be discriminated: (1) severe hemophilia A with <1% FVIII activity, (2) moderate hemophilia A with 1-5% FVIII activity, and (3) mild hemophilia A with 6-40% FVIII activity. Patients with hemophilia A experience prolonged bleeding or oozing following an injury, tooth extraction or surgery, and delayed or recurrent bleeding prior to complete wound healing. The major cause of disability from bleeding is chronic joint disease, and the leading cause of death related to bleeding is intracranial hemorrhage.

Hemophilia A is an X-linked recessive disease with a prevalence of ~1:5,000 live male births that is caused by mutations in the F8 gene encoding FVIII. The most common genetic defects in the F8 gene are intron 22 and intron 1 inversions, which occur in 43-45% and 2-5% of severe hemophilia A cases, respectively. The remaining types of pathogenic variants span the entire mutation spectrum, i.e. missense mutations, small deletions or insertions, nonsense mutations, splice site mutations, deletions and duplications. Deletions and duplications are found in ~5% of hemophilia A patients (http://f8-db.eahad.org/; Kim et al. 2012; Lannoy et al. 2012; Miller et al. 2012; Vencesla et al. 2012), and include single- and multi-exon deletions and duplications throughout the F8 gene, as well as whole gene deletions. More information about hemophilia A is available at https://www.ncbi.nlm.nih.gov/books/NBK1404/.

Regulatory status

SALSA MLPA Probemix P178 F8 is CE-marked for in vitro diagnostic (IVD) use.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P178-025R
SALSA MLPA Probemix P178 F8 – 25 rxn
MLPA
€ 281.00
P178-050R
SALSA MLPA Probemix P178 F8 – 50 rxn
MLPA
€ 550.00
P178-100R
SALSA MLPA Probemix P178 F8 – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00
How to Order

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.

See this support article for commercially available positive samples that have been tested with this product.

Resources

General resources

Learning

Publications

References

  • Kim H-J et al. (2012). Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A. Haemophilia. 18:1008-13.
  • Lannoy N et al. (2012). Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A. Haemophilia. 18:e331-9.
  • Miller CH et al. (2012). F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. Haemophilia. 18:375-82.
  • Venceslá Á et al. (2012). F8 gene dosage defects in atypical patients with severe haemophilia A. Haemophilia. 18:708-13.
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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.