Choose your country to see the products for your location

SALSA MLPA Probemix P348 ATP1A2-CACNA1A

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

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

Migraine is a common neurological disorder that affects up to 18% of the general population. Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine with aura. In 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. Roughly half of the FHM families are linked to chromosome 19p13 (FHM1; CACNA1A), other FHM families are linked to chromosome 1q23 (FHM2; ATP1A2).

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 chromosome 19p13, ~13 Mb from the p-telomere. The P348-B1 probemix contains one probe for each exon of the ATP1A2 gene with the exception of exons 18 and 23, and contains probes for 15 of the 47 exons of CACNA1A. In addition, nine reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

Order Items

Probemix

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

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location