Choose your country to see the products for your location

SALSA MLPA Probemix P098 Wilson disease

Wilson disease

Region: ATP7B 13q14.3

General information: The SALSA MLPA Probemix P098 Wilson disease is a research use only (RUO) assay for the detection of deletions or duplications in the ATP7B gene, which is associated with Wilson disease. This probemix can also be used to detect the presence of the R778L (c.2333G>T), A874V (c.2621C>T), H1069Q (c.3207C>A) and N1270S (c.3809A>G) point mutations, and the c.-441_427del15 mutation (15BP-DEL).

Wilson disease is an autosomal recessive disorder characterised by dramatic build-up of intracellular copper. Clinical features include liver disease, neurological problems and psychiatric disturbance. Wilson disease is caused by mutations in the ATP7B gene. The gene product is a member of the P-type cation transport ATPase family and plays an important role in transporting copper from the liver to other parts of the body (Bandmann et al. 2015).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1512/.

Probemix content: The SALSA MLPA Probemix P098-D1 Wilson disease contains 41 MLPA probes with amplification products between 132 and 445 nucleotides (nt). This includes 28 probes for the ATP7B gene, and one flanking probe in the ALG11 gene. In addition, 12 reference probes are included and detect 12 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This Probemix contains nine quality control fragments generating amplification products between 64 and 121 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.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P098-025R
SALSA MLPA Probemix P098 Wilson disease – 25 rxn
€ 243.00
P098-050R
SALSA MLPA Probemix P098 Wilson disease – 50 rxn
€ 486.00
P098-100R
SALSA MLPA Probemix P098 Wilson disease – 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 P104 Menkes ATP7A

Contains probes for the ATP7A gene, involved in Menkes disease.

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location