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P051 Parkinson mix 1

SALSA® MLPA® Probemix P051 Parkinson mix 1 detects duplications and triplications in the SNCA gene, deletions and duplications in the PARK2 gene, and the presence of one point mutation, G2019S in the LRRK2 gene, and can be used together with SALSA® MLPA® Probemix P052 Parkinson mix 2, which also detects deletions and duplications in the PARK2 gene, and the presence of the G2019S LRRK2 point mutation.

Specifications

Contents:

  • P051: 50 MLPA probes, including 9 probes for the PARK7 region (RUO, 1 upstream), 2 probes for ATP13A2 (RUO), 8 probes for PINK1 (RUO), 6 probes for SNCA (IVD), 13 probes for the PARK2 region (IVD) and 2 mutation-specific probes for SNCA A30P (RUO) and LRRK2 G2019S (IVD).
  • P052: 50 MLPA probes, including 2 probes for ATP13A2 (RUO), 9 probes for UCHL1 (RUO), 12 probes for PARK2 (IVD), 7 probes for LRRK2 (RUO), 6 probes for GCH1 (RUO, 1 upstream), 1 probe for CAV1 (RUO), 1 probe for CAV2 (RUO), and 1 mutation-specific probe for LRRK2 G2019S (IVD).

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: early-onset (PARK2 deletions/duplication, SNCA triplications, LRRK2 G2019S mutation) and late-onset (SNCA duplications, LRRK2 G2019S mutations) Parkinson's disease.

IVDR certified and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

P052 Parkinson mix 2

Parkinson disease. Contains probes for PARK2; UCHL1; GCH1; LRRK2; ATP13A2.

P099 GCH1-TH-SGCE-PRRT2

Contains one probe for each exon of GCH1, involved in autosomal dominant dopa responsive dystonia.

View all

This product has recently been CE-marked for in vitro diagnostic (IVD) use under the In Vitro Diagnostic Regulation (IVDR; EU 2017/746), which replaces the former CE-marking under the IVD Directive (IVDD; Directive 98/79/EC). This update was accompanied by a change in the intended purpose and a change in format of the product description. Some information can now be found in a different location (more information).

Intended purpose

The SALSA MLPA Probemixes P051 Parkinson mix 1 and P052 Parkinson mix 2 are in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual assays for the detection of duplications and triplications in the SNCA gene (P051), deletions and duplications in the PARK2 gene, and the presence of one point mutation, G2019S in the LRRK2 gene (P051 and P052), in genomic DNA isolated from human peripheral whole blood specimens. P051 Parkinson mix 1 and P052 Parkinson mix 2 are intended to confirm a potential cause for early-onset (PARK2 deletions/duplication, SNCA triplications, LRRK2 G2019S mutation) and late-onset (SNCA duplications, LRRK2 G2019S mutations) Parkinson's disease and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Parkinson's disease is the second most common neurodegenerative disorder and is characterized by the degeneration of dopaminergic neurons of the midbrain. Resting tremor, bradykinesia, rigidity, and postural instability are the main clinical manifestations of the disease, and further motor complications can arise as the disease progresses. Further, in 30-40% of cases, dementia and/or psychosis occur. The most common age of onset for PD is around 60 years (the disease is characterised as Late-Onset or LOPD from 50 years of age), but this can vary. Early-onset PD (EOPD) is a form of the disease in which the first symptoms appear between the ages of 20-50 years. Additionally, juvenile PD (PDJ) is described when the first symptoms appear at 20 years of age or even earlier. The majority of Parkinson's disease cases are sporadic and a family history is reported in approximately 15% of patients. There are more than 10 million people worldwide with PD. The age-standardized prevalence rate for PD in the United Kingdom is around 140 per 100,000 population. The incidence increases with age and it is estimated that 4% of PD patients are diagnosed before the age of 50.

Parkinson's disease is assumed to be multifactorial in most cases, caused by a combination of genetic and environmental risk factors. The most important "environmental" risk factor is aging.

Mutations in multiple genes are associated with autosomal dominant (SNCA, LRRK2, GCH1, UCHL1) or autosomal recessive (PARK2 (also known as PRKN), PINK1, PARK7, ATP13A2) Parkinson's disease. Mutations in these genes range from point mutations to larger exonic rearrangements including deletions and duplications. The presence of multiple copies of SNCA is known to be associated with Parkinson's disease and the severity of symptoms increases with the number of copies of the gene (Keyser et al. 2010, Matsumoto et al. 2010). Duplications lead to LOPD, while triplications lead to a more severe form of EOPD with dementia. The LRRK2 G2019S mutation (p.Gly2019Ser, c.6055G>A) is the most common Parkinson-associated mutation known today and has been reported in 41% of sporadic and 37% of familial Parkinson patients from the North African Arab population and in 18.3% of Ashkenazi Jewish Parkinson patients (Lesage et al. 2006, Ozelius et al. 2006), while the mutation has been found in only 0.58% Parkinson patients of European and Asian origin (Ross et al. 2011).

Mutations in PARK2 and PINK1 are the most common causes of EOPD, however the frequencies vary widely across studies. It has been reported that up to 50% of familial and 18% of sporadic EOPD cases had pathogenic PARK2 mutations, whereas more recent studies have reported a pathogenic mutation frequency as low as 1.6%. Frequency estimates for PINK1 mutations tend to fall within a similarly broad range as for PARK2, whereas PARK7 mutations are generally very rare, being estimated in a UK-based study in 0.4% (Kilarski et al. 2012). Parkinson-related mutations in ATP13A2, GCH1 and UCHL1 are very rare.

More information is available on https://www.ncbi.nlm.nih.gov/books/NBK1223/ and https://www.ncbi.nlm.nih.gov/books/NBK1478/.

Regulatory status

SALSA MLPA Probemix P051 Parkinson mix 1 is CE-marked under the IVDR for in vitro diagnostic (IVD) use in Europe. This assay has also been registered for IVD use in Israel.

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

SALSA Sample DNA for this product

SALSA Binning DNA SD067 is an artificial DNA sample with a signal for all probes in the P051 Parkinson mix 1 probemix. Inclusion of a reaction with SD067 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 SD067 is included with every order of the P051 Parkinson mix 1 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version D2

Other versions

Contact us for earlier versions.

Translations and Summary of Safety and Performance

Translations of the product description in selected European languages are available upon request. Please contact us or one of our local sales partners. Translations of the MLPA General Protocol in selected languages are available here.

The Summary of Safety and Performance (SSP) is also available upon request.

List prices

Product

Item no.
Description
Technology
Price
P051-025R
SALSA MLPA Probemix P051 Parkinson mix 1 – 25 rxn
MLPA
€ 286.00
P051-050R
SALSA MLPA Probemix P051 Parkinson mix 1 – 50 rxn
MLPA
€ 560.00
P051-100R
SALSA MLPA Probemix P051 Parkinson mix 1 – 100 rxn
MLPA
€ 1096.00

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
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

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
SD067
SALSA Binning DNA SD067 – 6 rxn
MLPA
€ 24.15

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.

PARK7 & TNFRSF9

  • Coriell NA50276: Heterozygous deletion affecting the probes for TNFRSF9 and PARK7.

SCNA

LPA & PARK2

  • Coriell NA06802: Heterozygous deletion affecting the probes for LPA and PARK2.
  • Coriell NA07994: Heterozygous duplication affecting the probes for LPA and PARK2.

PARK2

  • Coriell NA21698: Heterozygous deletion affecting the probe for PARK2 exon 1.
  • Coriell ND35201: Homozygous deletion affecting the probes for PARK2 exon 3-4.

LRRK2

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P051 Parkinson mix 1

  • Ambroziak W et al. (2015). Genomic instability in the PARK2 locus is associated with Parkinson's disease. J Appl Genet. 56:451-61.
  • Angeli A et al. (2013). Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. Mov Disord. 28:1370-5.
  • Bandrés-Ciga S et al. (2016). Analysis of the genetic variability in Parkinson's disease from Southern Spain. Neurobiol Aging. 37:210.e1-5.
  • Choi JM et al. (2008). Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics. 9:263-9.
  • Ferese R et al. (2015). Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings. Parkinsons Dis. 2015:546462.
  • Garraux G et al. (2012). Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism. Arch Neurol. 69:398-400.
  • Huang T et al. (2019). Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. Brain Behav. 9:e01372.
  • Illés A et al. (2019). The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials. Front Genet. 10:1061.
  • Morais S et al. (2016). Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. Neurol Genet. 2:e73.
  • Mutez E et al. (2023). Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism. Eur J Neurol. 30:1667-75.

References

  • Keyser RJ et al. (2010). Analysis of exon dosage using MLPA in South African Parkinson's disease patients. Neurogenetics. 11:305-12.
  • Kilarski LL et al. (2012). Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Mov Disord. 27:1522-9.
  • Lesage S et al. (2006). LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med. 354:422-3.
  • Matsumoto L et al. (2010). CpG demethylation enhances alpha-synuclein expression and affects the pathogenesis of Parkinson's disease. PLoS One. 5:e15522.
  • Ozelius LJ et al. (2006). LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med. 354:424-5.
  • Ross OA et al. (2011). Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol. 10:898-908.
  • Segawa M et al. (1976). Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol. 14:215-33.
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Choose your country to see the products for your location

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.

CE2797

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.

IL

IVD-registered in Israel.