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SALSA MLPA Probemix P091 CFTR

SALSA® MLPA® Probemix P091 CFTR detects copy number variations in the CFTR gene.

Specifications

Contents: 44 MLPA probes, including 30 probes for CFTR (covering all 27 exons), 1 probe for p.Phe508del and 1 probe for p.Ile507del.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: cystic fibrosis (CF) or congenital absence of the vas deferens (CAVD).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Intended purpose

The SALSA MLPA Probemix P091 CFTR is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the CFTR gene and the wild type allele of the CFTR p.Phe508del and p.Ile507del mutations in genomic DNA isolated from human peripheral whole blood specimens. P091 CFTR is intended to confirm a potential cause for and clinical diagnosis of cystic fibrosis or congenital absence of the vas deferens, and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Cystic fibrosis is a childhood-onset, multisystem disorder that affects epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, exocrine sweat glands and reproductive organs. The major clinical characteristics of cystic fibrosis are progressive obstructive pulmonary disease, pancreatic insufficiency, failure to thrive, meconium ileus, elevated sweat chloride levels and male infertility due to congenital absence of the vas deferens (CAVD). There is, however, a high variability in cystic fibrosis phenotypes, which range from severe forms affecting multiple organ systems (i.e. classical phenotype) to mild disease manifestations affecting a single organ (e.g. only CAVD).

Cystic fibrosis is the most common life-shortening autosomal recessive disorder in individuals of northern European (Caucasian) background, with a disease incidence of 1:3,200 live births and a carrier frequency of 1:28. The disease frequency is much lower in other ethnic populations, e.g. 1:15,000 in African Americans and 1:31,000 in Asian Americans. Cystic fibrosis and CAVD are both caused by homozygous or compound heterozygous mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which encodes a cAMP-regulated chloride channel expressed at the apical membrane of exocrine/secretory epithelial cells (Kerem et al. 1989; Riordan et al. 1989; Rommens et al. 1989). The defective protein impairs ion transport and water movement across epithelia, which among other things leads to an increased salt concentration in sweat and the formation of viscous mucus obstructing the airways of the lungs and ducts of the pancreas.

The most common CFTR variants are point mutations and small insertions/deletions, which are detected in 97-98% of the probands with cystic fibrosis and 79% of the probands with CAVD (Yu et al. 2012). The p.Phe508del (F508del; c.1521_1523del) mutation is the variant most commonly found in the general population, affecting ~66% of the CFTR alleles worldwide (Bobadilla et al. 2002). Other mutations have a much lower frequency, e.g. the p.Ile507del (I507del; c.1519_1521del) mutation constitutes ~0.5-1.3% of all CFTR mutations identified (Bobadilla et al. 2002). Large deletions and duplications are found in <3% of patients with cystic fibrosis and CAVD. The frequency and spectrum of CFTR mutations vary widely among different populations and depend upon the geographical and ethnic origin of patients (Estivill et al. 1997). Some mutations tend to be seen more frequently in specific populations. For example, a deletion of CFTR exon 2 and 3 (CFTRdele2,3 (21 kb)) is rather common among patients of German or Eastern European origin (Dörk et al. 2000). More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1250/.

Regulatory status

SALSA MLPA Probemix P091 CFTR is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia and Israel.

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

Product documentation

Version D2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P091-025R
SALSA MLPA Probemix P091 CFTR – 25 rxn
MLPA
€ 281.00
P091-050R
SALSA MLPA Probemix P091 CFTR – 50 rxn
MLPA
€ 550.00
P091-100R
SALSA MLPA Probemix P091 CFTR – 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

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 have been tested with the current (D2) version of this product and have been shown to produce useful results.

  • Coriell HG01565: Heterozygous deletion affecting the probes for CFTR. The flanking probes are not affected.
  • Coriell HG02461: Heterozygous deletion affecting the probes for CFTR exon 19-21.
  • Coriell HG04131: Heterozygous deletion affecting the probes for CFTR exon 4-11.
  • Coriell NA01059: Heterozygous deletion affecting the probes for CFTR. The flanking probes are also affected.
  • Coriell NA01531: Homozygous positive for the CFTR ΔF508 mutation.
  • Coriell NA11277: Heterozygous positive for the CFTR ΔI507 mutation.
  • Coriell NA12519: Heterozygous triplication affecting the probes for CFTR. The flanking probes are also affected.
  • Coriell NA18668: Heterozygous deletion affecting the probes for CFTR exon 2-3. Heterozygous positive for the CFTR ΔF508 mutation.

Resources

General MLPA resources

MLPA education

Publications

References

  • Bobadilla JL et al. (2002). Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum Mutat. 19:575-606.
  • Dörk T et al. (2000). Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet. 106:259-68.
  • Estivill X et al. (1997). Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat. 10:135-54.
  • Kerem B et al. (1989). Identification of the cystic fibrosis gene: genetic analysis. Science. 245:1073-80.
  • Riordan JR et al. (1989). Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 245:1066-73.
  • Rommens JM et al. (1989). Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 245:1059-65.
  • Yu J et al. (2012). CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum Reprod. 27:25-35.
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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.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.