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SALSA MLPA Probemix P256 FLCN

SALSA® MLPA® Probemix P256 FLCN detects copy number variations in the FLCN gene.

Specifications

Contents: 27 MLPA probes, including 15 probes for FLCN and 2 probes for c.1285delC and c.1285dupC mutations.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Birt-Hogg-Dubé syndrome (BHDS).

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

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List Prices Documentation

Key related products

SALSA MLPA Probemix P225 PTEN

Contains probes for the PTEN gene. This gene is associated with Cowden syndrome, which is a disease related to BHDS.

SALSA MLPA Probemix P369 Smith-Magenis

Contains probes for the 17p11.2 region, including several probes for the FLCN gene. This region is associated with Smith-Magenis syndrome (SMS).

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Intended purpose

The SALSA MLPA Probemix P256 FLCN is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the FLCN gene, as well as the presence of the two most common point mutations, c.1285delC and c.1285dupC, in genomic DNA isolated from human peripheral whole blood specimens. P256 FLCN is intended to confirm a potential cause for and clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Birt-Hogg-Dubé syndrome (BHDS) is a rare inherited genodermatosis, characterised by hair follicle hamartomas, kidney tumours, pulmonary cysts, and spontaneous pneumothorax. BHDS is inherited in an autosomal dominant fashion and is associated with mutations in the FLCN gene that encodes a protein called folliculin. Folliculin acts as a tumour suppressor in the mTOR pathway and inactivation of FLCN leads to increased mitochondrial oxidative metabolism (Hartman et al. 2009).

In >95% of BHDS patients a germline mutation in FLCN is identified. In <8% of BHDS patients the causative mutation is a large CNV. Penetrance is high and there is extensive clinical variability. The prevalence is roughly estimated at ~1:200,000. A second (somatic) FLCN mutation or loss of heterozygosity is found in the majority (~70%) of BHDS-associated renal tumours, in line with the Knudsen two-hit model of tumorigenesis.

Notably, there is a hypermutable C8-tract in exon 11 that spawns the two most common FLCN mutations c.1285dupC and c.1285delC; ~20-24% of patients show a germline deletion or insertion of a cytosine at this site (Nickerson et al. 2002; Schmidt et al. 2005; Toro et al. 2007; Toro et al. 2008; Liu et al. 2017). A slippage-mediated mechanism during DNA replication is thought to be responsible for these frameshift mutations leading to protein truncation.

More information is available at: https://www.ncbi.nlm.nih.gov/books/NBK1522/

Regulatory status

SALSA MLPA Probemix P256 FLCN is CE-marked for in vitro diagnostic (IVD) use.

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

SALSA Sample DNA for this product

SALSA Binning DNA SD032 is an artificial DNA sample with a signal for all probes in the P256 FLCN probemix. Inclusion of a reaction with SD032 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD032 is included with every order of the P256 FLCN probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P256-025R
SALSA MLPA Probemix P256 FLCN – 25 rxn
MLPA
€ 281.00
P256-050R
SALSA MLPA Probemix P256 FLCN – 50 rxn
MLPA
€ 550.00
P256-100R
SALSA MLPA Probemix P256 FLCN – 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

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD032
SALSA Binning DNA SD032 – 6 rxn
MLPA
€ 23.70
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

Selected publications using SALSA MLPA Probemix P256 FLCN

  • Benhammou JN et al. (2011). Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosomes Cancer. 50:466-77.
  • Cai M et al. (2021). A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review. Front Genet. 12:636900.
  • Ding Y et al. (2015). FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax. Am J Med Genet A. 167A:1125-33.
  • Ding Y et al. (2015). Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax. Mol Med Rep. 12:7770-6.
  • Houweling AC et al. (2011). Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer. 105:1912-9.
  • Liu K et al. (2019). Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants. Orphanet J Rare Dis. 14:223.
  • Menko FH et al. (2013). A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Fam Cancer. 12:373-9.
  • Rossing M et al. (2017). Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. J Hum Genet. 62:151-7.
  • Sempau L et al. (2010). New Mutation in the Birt Hogg Dube Gene. Actas Dermosifiliogr. 101:637-40.

References

  • Hartman TR et al. (2009). The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene. 28:1594-604.
  • Liu Y et al. (2017). Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. Orphanet J Rare Dis. 12:104.
  • Nickerson ML et al. (2002). Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2:157-64.
  • Schmidt LS et al. (2005). Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 76:1023-33.
  • Toro JR et al. (2007). Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med. 175:1044-53.
  • Toro JR et al. (2008). BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet. 45:321-31.
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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.