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SALSA MLPA Probemix P348 ATP1A2-CACNA1A-PRRT2

Hemiplegic migraine type 1, familial (FHM1); Hemiplegic migraine type 2, familial (FHM2); Paroxysmal Kinesigenic Dyskinesia

Region: ATP1A2 1q23.2; CACNA1A 19p13.13; PRRT2 16p11.2

MLPA | Improved
General information: The SALSA MLPA Probemix P438 ATP1A2-CACNA1A-PRRT2 is a research use only (RUO) assay for the detection of deletions or duplications in the ATP1A2, CACNA1A and PRRT2 genes, which are associated with familial hemiplegic migraine (FHM).

Migraine is a common neurological disorder that affects up to 15% of the general population (Vos et al. 2012). FHM is a rare autosomal dominantly inherited subtype of migraine with aura. In case of FHM, the aura usually consist of a phase with hemiparesis accompanied by typical aura symptoms, including visual, sensory or speech disturbances, followed by a headache phase (Jen JC. 2015). Four genes have been identified for different types of FHM: CACNA1A, ATP1A2, SCN1A and the more recently identified gene PRRT2 (Friedrich et al. 2016).

The ATP1A2 gene (23 exons) spans ~28 kb of genomic DNA and is located on 1q23.2, ~160 Mb from the p-telomere. The CACNA1A gene (47 exons) spans ~300 kb of genomic DNA and is located on 19p13, ~13 Mb from the p-telomere. The PRRT2 gene (4 exons) spans ~3.7 kb of genomic DNA and is located on 16p11.2, ~30 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1388/.

Probemix content: The SALSA MLPA Probemix P348-C1 ATP1A2-CACNA1A-PRRT2 contains 49 MLPA probes with amplification products between 130 and 511 nucleotides (nt). This includes 21 probes for ATP1A2, 15 probes for CACNA1A and five probes for PRRT2. In addition, eight 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 (see table below). 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.


Order Items

Probemix

Item no.
Description
Technology
Price
P348-025R
SALSA MLPA Probemix P348 ATP1A2-CACNA1A-PRRT2 – 25 rxn
€ 243.00
P348-050R
SALSA MLPA Probemix P348 ATP1A2-CACNA1A-PRRT2 – 50 rxn
€ 486.00
P348-100R
SALSA MLPA Probemix P348 ATP1A2-CACNA1A-PRRT2 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

SALSA MLPA Probemix P279 CACNA1A

Contains more probes for the CACNA1A gene.

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