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SALSA MLPA Probemix P113 FANCB

Fanconi anemia complementation group B

Region: FANCB Xp22

General information: The SALSA MLPA Probemix P113 FANCB is a research use only (RUO) assay for the detection of deletions or duplications in the FANCB gene, which is associated with Fanconi anemia.

Fanconi anemia is a rare genetically heterogeneous recessive disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer due to cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. FANCB is the only gene known to cause X-linked Fanconi Anemia. Patients harboring the X‐linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus.

The FANCB gene (10 exons), spans ~29.7 kb of genomic DNA and is located on chromosome Xp22.2, ~14.8 Mb from the p telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1401/.

Probemix content: The SALSA MLPA Probemix P113-B1 FANCB contains 25 MLPA probes with amplification products between 142 and 346 nucleotides (nt). This includes one probe for each exon of the FANCB gene, with one additional probe for exon 3, 8 and 10. Furthermore, two probes located upstream of exon 1 and one probe downstream of exon 10 are included. In addition, nine reference probes are included that detect locations on the X-chromosome. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).

This probemix contains ten 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 two chromosome Y-specific fragments. 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
P113-025R
SALSA MLPA Probemix P113 FANCB – 25 rxn
€ 243.00
P113-050R
SALSA MLPA Probemix P113 FANCB – 50 rxn
€ 486.00
P113-100R
SALSA MLPA Probemix P113 FANCB – 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 P031 FANCA mix 1

Fanconi Anemia group A – genes included: FANCA.

SALSA MLPA Probemix P032 FANCA mix 2

Fanconi Anemia group A – genes included: FANCA.

SALSA MLPA Probemix P057 FANCD2-PALB2

Fanconi Anemia – genes included: FANCD2, PALB2.

SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D

Fanconi anemia – genes included: PALB2-RAD50-RAD51C-RAD51D.

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