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SALSA MLPA Probemix P052 Parkinson mix 2

SALSA® MLPA® Probemix P052 Parkinson mix 2 detects copy number variations in the PARK2, ATP13A2, UCHL1, LRRK2, GCH1, CAV1 and CAV2 genes, and can be used together with SALSA® MLPA® Probemix P051 Parkinson mix 1, which detects copy number variations in PARK7, PINK1 and SCNA, and offers additional coverage of ATP13A2 and PARK2.

Specifications

Contents:

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

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Parkinson's disease (PD) and GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD).

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

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List Prices Documentation

Key related products

SALSA MLPA Probemix P051 Parkinson mix 1

Parkinson disease. Contains probes for PARK2; SNCA; PINK1; PARK7; ATP13A2; LRRK2.

SALSA MLPA Probemix P099 GCH1-TH-SGCE-PRRT2

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

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Intended purpose

The SALSA MLPA Probemixes P051 and P052 Parkinson are an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplication in SNCA, PARK2, UCHL1, PINK1, PARK7, ATP13A2, LRRK2, GCH1 genes, and the presence of two point mutations, A30P in the SNCA gene and G2019S in the LRRK2 gene, in genomic DNA isolated from human peripheral whole blood specimens. P051 and P052 Parkinson are intended to confirm a potential cause for and clinical diagnosis of Parkinson’s disease and for molecular genetic testing of at-risk family members. Additionally, deletions or duplication in GCH1 gene, covered by P052 Parkinson mix 2, can be used to confirm a potential cause for and clinical diagnosis of GTP cyclohydrolase 1-deficient dopa-responsive dystonia 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. Parkinson’s disease occurs in approximately 13 per 100,000 people. The age of onset in patients with Parkinson’s disease varies over a wide range and can be defined as either early onset (≤50 years) or late onset (>50 years). The majority of Parkinson’s disease cases are sporadic and a family history is reported in approximately 10-20% of patients.

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). 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 early onset Parkinson’s disease (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.

GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD), also known as autosomal dominant Segawa syndrome (OMIM #128230) is characterised by a childhood-onset dystonia, postural and motor disturbances showing marked diurnal fluctuation, and late development of parkinsonism (Segawa et al. 1976). All individuals with this disorder, are treated with relatively low doses of levodopa and show complete or near-complete reversal of symptoms. The disorder is caused by mutations in the GCH1 gene encoding GTP cyclohydrolase 1.

More information is available on https://www.ncbi.nlm.nih.gov/books/NBK1223/; https://www.ncbi.nlm.nih.gov/books/NBK1478/ and https://www.ncbi.nlm.nih.gov/books/NBK1508/.

Regulatory status

SALSA MLPA Probemix P052 Parkinson mix 2 is CE-marked for in vitro diagnostic (IVD) use. 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 P052 Parkinson mix 2 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 P052 Parkinson mix 2 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.

List prices

Product

Item no.
Description
Technology
Price
P052-025R
SALSA MLPA Probemix P052 Parkinson mix 2 – 25 rxn
MLPA
€ 281.00
P052-050R
SALSA MLPA Probemix P052 Parkinson mix 2 – 50 rxn
MLPA
€ 550.00
P052-100R
SALSA MLPA Probemix P052 Parkinson mix 2 – 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
SD067
SALSA Binning DNA SD067 – 6 rxn
MLPA
€ 23.70

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.

UCHL1

PARK2

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

PARK2 & PACRG

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

PACRG

  • Coriell NA21698: Heterozygous deletion affecting the probe for PACRG exon 1.

CAV2 & CAV1

  • Coriell NA01059: Heterozygous deletion affecting the probes for CAV2 and CAV1.
  • Coriell NA12519: Heterozygous triplication/homozygous duplication affecting the probes for CAV2 and CAV1.

LRRK2

GCH1

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P052 Parkinson mix 2

  • Ambroziak W et al. (2015). Genomic instability in the PARK2 locus is associated with Parkinson's disease. J Appl Genet. 56:451-61.
  • Ferese R et al. (2015). Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings. Parkinsons Dis. 2015:546462.
  • 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.
  • Mutez E et al. (2023). Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism. Eur J Neurol. 30:1667-75.
  • Sun YM et al. (2023). Genetic and Epigenetic Study of Monozygotic Twins Affected by Parkinson’s Disease. Clin Transl Neurosci. 7:11.
  • Sun YM et al. (2023). The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinsons Dis. 9:76.
  • Tay YW et al. (2023). Genetic study of early-onset Parkinson's disease in the Malaysian population. Parkinsonism Relat Disord. 111:105399.
  • Tejera-Parrado C et al. (2020). A genetic analysis of a Spanish population with early onset Parkinson's disease. PLoS One. 15:e0238098.
  • Zhang L et al. (2021). Genetic study of a Chinese pedigree with early onset Parkinson's disease caused by novel compound heterozygous mutations in PARKIN gene. Ibrain. 7:108-12.
  • Zhu W et al. (2022). Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease. Brain. 145:2077-91.

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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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.

IL

IVD-registered in Israel.