Choose your country to see the products for your location

SALSA MLPA Probemix P057 FANCD2-PALB2

Fanconi anemia (FA)

Region: FANCD2 3p25.3; PALB2 16p12.2

General Information: The SALSA MLPA Probemix P057 FANCD2-PALB2 is a research use only (RUO) assay for the detection of deletions or duplications in the FANCD2 and PALB2 genes, which are associated with Fanconi Anemia (FA).

FA is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as with dermal pigmentary changes. Several FA-associated genes have been identified so far, the products of which function in the FA/BRCA pathway. A key event in the pathway is the monoubiquitination of the FANCD2 protein, which depends on a multiprotein FA core complex. Defects in the FANCD2 gene are one of the possible causes of FA. The FANCD2 gene (44 exons) spans ~73 kb of genomic DNA and is located on chromosome 3p25.3, about 10 Mb from the p-telomere.

FA has also been linked to defects in the PALB2 gene. It was shown that mutations in PALB2 result in an increased susceptibility to breast cancer and that biallelic mutations cause Fanconi anemia subtype FA-N and predispose to childhood cancers. PALB2 mutations have also been detected in approximately 3% of familial pancreatic cancer families, especially those families in which also breast cancer cases occur (Slater et al. 2010). The PALB2 gene spans ~38 kb of genomic DNA and is located on chromosome 16p12.2, about 24 Mb from the p-telomere.

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

Probemix content: The SALSA MLPA Probemix P057-B2 FANCD2-PALB2 contains 39 MLPA probes with amplification products between 130 and 431 nt. This includes 15 probes targeting 14 out of 44 exons of the FANCD2 gene. Furthermore, it also contains 13 probes for the PALB2 gene, one probe for every exon. In addition, 11 reference probes are included and detect 11 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 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, 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 Product Description, the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P057-025R
SALSA MLPA Probemix P057 FANCD2-PALB2 – 25 rxn
€ 243.00
P057-050R
SALSA MLPA Probemix P057 FANCD2-PALB2 – 50 rxn
€ 486.00
P057-100R
SALSA MLPA Probemix P057 FANCD2-PALB2 – 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. Probes for the FANCA gene included.

SALSA MLPA Probemix P032 FANCA mix 2

Fanconi Anemia group A. Probes for the FANCA gene included.

SALSA MLPA Probemix P113 FANCB

Fanconi Anemia group B. Probes for the FANCB gene included.

SALSA MLPA Probemix P260 PALB2-RAD50-RAD51C-RAD51D

Probes for the PALB2, RAD50, RAD51C and RAD51D genes included.

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location