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SALSA MLPA Probemix P352 PKD1-PKD2

SALSA® MLPA® probemixes P351 PKD1 and P352 PKD1-PKD2 detect copy number variations in the PDK1, PDK2 and TSC2 genes.

Specifications

Contents: P351 PKD1 and P352 PKD1-PKD2 together contain 88 MLPA probes, including 45 probes for PDK1 covering 41 of the 46 exons, 18 probes for PDK2 covering all 15 exons, and 3 probes for TSC2.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: autosomal dominant polycystic kidney disease (ADPKD) and TSC2/PKD1 contiguous gene deletion syndrome.

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

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Key related products

SALSA MLPA Probemix P046 TSC2

Contains probes for the TSC2 gene, involved in tuberous sclerosis complex.

SALSA MLPA Probemix P337 TSC2 Confirmation

Contains probes for the TSC2 gene. Used as confirmation of P046 results.

SALSA MLPA Probemix P341 PKHD1 mix 1

Contains probes for the PKHD1 gene, responsible for autosomal recessive polycystic kidney disease.

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Intended purpose

The SALSA MLPA Probemixes P351 PKD1 and P352 PKD1-PKD2 are in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assays for the detection of deletions or duplications in the PKD1 and PKD2 genes, in order to confirm a potential cause for and clinical diagnosis of autosomal dominant polycystic kidney disease (ADPKD). P351 PKD1 can also be used to detect deletions or duplications in TSC2 exons 36, 38 and 42. Deletions disrupting both PKD1 and TSC2 can confirm a potential cause for and clinical diagnosis of TSC2/PKD1 contiguous gene deletion syndrome. Both assays are for use with genomic DNA isolated from human peripheral whole blood specimens, and are also intended for molecular genetic testing of at-risk family members.

The detection of copy number variations (CNVs) in PKD1 requires the use of both P351 PKD1 and P352 PKD1-PKD2, whereas the detection of CNVs in PKD2 only requires the use of P352 PKD1-PKD2.

For the full intended purpose, see the product description.

Clinical background

Autosomal dominant polycystic kidney disease (ADPKD), the most common hereditary kidney disease, is characterised by bi-lateral development and expansion of renal cysts, hypertension and a progressive decline in renal function. In ~50% of affected individuals, ADPKD results in end-stage renal disease (ESRD), and 4-10% of ESRD worldwide is due to ADPKD. Although the kidney is the main organ involved, ADPKD is a multisystem disorder with profound extra-renal manifestations, including liver cysts and intracranial aneurysms. There is a substantial intra- and interfamilial variability in the severity of both renal and extra-renal disease manifestations. ADPKD is typically a late-onset disease diagnosed in adulthood, but about 2-5% of the ADPKD patients show a very early onset of the disease (during childhood or even prenatally) and a severe phenotype.

ADPKD is caused by heterozygous pathogenic mutations in either the PKD1, PKD2, GANAB, DNAJB11, ALG5, ALG9 or IFT140 genes (Besse et al. 2019; Cornec-Le Gall et al. 2018; Lemoine et al. 2022; Porath et al. 2016; Senum et al. 2022). Most patients carry a defect in PKD1 (~78%) or PKD2 (~15%), whereas a minority of the cases is explained by defects in GANAB (<0.5%), DNAJB11 (<0.5%), ALG5 (<0.5%), ALG9 (<0.5%) and IFT140 (1-2%). In ~5% of the cases, the underlying genetic defect is unknown. Patients with a PKD1 mutation, especially those with truncating mutations, generally have a more rapidly progressive disease with an earlier onset of ESRD than patients with a PKD2 mutation. It is estimated that ~3% of the PKD1 and PKD2 mutations are deletions or duplications (Carrera et al. 2016; Consugar et al. 2008; Schonauer et al. 2020; Xu et al. 2018). More information about ADPKD is available at https://www.ncbi.nlm.nih.gov/books/NBK1246/.

TSC2/PKD1 contiguous gene deletion syndrome is a disorder in which the phenotypes of tuberous sclerosis complex and ADPKD are combined. Tuberous sclerosis complex is a neurocutaneous disorder that involves abnormalities of the skin, brain, kidney, heart and lungs. When combined with ADPKD, it is characterised by a very early onset of severe polycystic kidney disease, that is diagnosed in utero or in infancy. The PKD1 gene lies directly adjacent to the TSC2 gene in a tail-to-tail orientation. Large PKD1 deletions that also disrupt the adjacent TSC2 gene result in TSC2/PKD1 contiguous gene deletion syndrome (Consugar et al. 2008).

Regulatory status

SALSA MLPA Probemix P352 PKD1-PKD2 is CE-marked for in vitro diagnostic (IVD) use.

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

Product documentation

Version E1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P352-025R
SALSA MLPA Probemix P352 PKD1-PKD2 – 25 rxn
MLPA
€ 281.00
P352-050R
SALSA MLPA Probemix P352 PKD1-PKD2 – 50 rxn
MLPA
€ 550.00
P352-100R
SALSA MLPA Probemix P352 PKD1-PKD2 – 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 (E1) version of this product and have been shown to produce useful results.

Resources

General MLPA resources

MLPA education

Publications

References

  • Besse W et al. (2019). ALG9 Mutation Carriers Develop Kidney and Liver Cysts. J Am Soc Nephrol. 30:2091-102.
  • Carrera P et al. (2016). Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sci Rep. 6:30850.
  • Consugar MB et al. (2008). Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 74:1468-79.
  • Cornec-Le Gall E et al. (2018). Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. Am J Hum Genet. 102:832-44.
  • Lemoine H et al. (2022). Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis. Am J Hum Genet. 109:1484-99.
  • Porath B et al. (2016). Mutations in GANAB, Encoding the Glucosidase IIa Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 98:1193-207.
  • Schönauer R et al. (2020). Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes. Genet Med. 22:1374-83.
  • Senum SR et al. (2022). Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet. 109:136-56.
  • Xu D et al. (2018). Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. Kidney Blood Press Res. 43:297-309.
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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.