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SALSA MLPA Probemix P059 Dystonia

Dystonia

Region: PRKRA; THAP1; TOR1A; ATP1A3

General information
The SALSA MLPA Probemix P059 Dystonia is a research use only (RUO) assay for the detection of deletions or duplications in the TOR1A, THAP1, ATP1A3, and PRKRA genes, which are associated with Dystonia. This probemix can also be used to detect the presence of the c.907_909delGAG point mutation.

Dystonias comprise a heterogeneous group of neurological movement disorders, characterized by involuntary sustained muscle contractions affecting one or more sites of the body. Dystonia can have several causes, including genetic defects. Multiple genes in different forms of dystonia have been described so far. The TOR1A gene is associated with early-onset generalized dystonia (DYT1), whereas the THAP1 gene is associated with adolescent-onset segmental/generalized dystonia (DYT6), and the ATP1A3 (DYT12) and PRKRA (DYT16) genes are associated with rapid onset dystonia with parkinsonism and autosomal recessive dystonia with parkinsonism, respectively. This probemix can also detect the presence of the 3-bp deletion c.907_909delGAG involving the highly conserved GAGGAG sequence in exon 5 of the TOR1A gene.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1155/.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content

The SALSA MLPA Probemix P059-B2 Dystonia contains 44 MLPA probes with amplification products between 130 and 483 nucleotides (nt). This includes five probes for the TOR1A gene, three probes for the THAP1 gene, 17 probes for the ATP1A3 gene, and nine for the PRKRA gene Furthermore, this probemix also contains one probe specific for the c.907_909delGAG mutation in the TOR1A gene, which will only generate a signal when the mutation is present. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.

SALSA Binning DNA SD044
The SD044 Binning DNA provided with this probemix can be used for binning of all probes including the mutation-specific probe (166 nt probe 15798-SP0278-L17858 for the c.907_909delGAG mutation). SD044 Binning DNA is a mixture of genomic DNA from healthy individuals and plasmid DNA that contains the target sequence detected by the above mentioned probe. Inclusion of one reaction with 5 μl SD044 Binning DNA in initial MLPA experiments is essential as it can be used to aid in data binning of the peak pattern using Coffalyser.Net software. Furthermore, Binning DNA should be included in the experiment whenever changes have been applied to the set-up of the capillary electrophoresis device (e.g. when capillaries have been renewed). Binning DNA should never be used as a reference sample in the MLPA data analysis, neither should it be used in quantification of mutation signal(s). It is strongly advised that all samples tested are extracted with the same method and derived from the same source of tissue. For further details, please consult the SD044 Binning DNA product description, available online: www.mrcholland.com. This product is for research use only (RUO).

Sample DNA
Sample DNA developed for this product:

Order Items

Probemix

Item no.
Description
Technology
Price
P059-025R
SALSA MLPA Probemix P059 Dystonia – 25 rxn
€ 281.00
P059-050R
SALSA MLPA Probemix P059 Dystonia – 50 rxn
€ 550.00
P059-100R
SALSA MLPA Probemix P059 Dystonia – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6037.00

Related Products

SALSA MLPA Probemix P099 GCH1-TH-SGCE-PRRT2

Contains probes for the GCH1, TH, SGCE and PRRT2 genes involved in Dystonia.

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