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SALSA MLPA Probemix P357 MODY Mix 2

Maturity-onset diabetes of the young (MODY) type 4-10

Region: PDX1 13q12.2; HNF1B 17q12; NEUROD1 2q31,3; KLF11 2p25.1; CEL 9q34.2; PAX4 7q32,1; INS 11p15.5

Maturity-Onset Diabetes of the Young (MODY) is a distinct form of non insulin-dependent diabetes mellitus (NDDM), also known as type II diabetes. MODY has a clear autosomal inheritance and it generally develops in individuals under 25 years of age. Approximately 5% of all diabetes patients suffer from MODY. As described in more detail on page 2, eleven forms of MODY have now been identified with the highest prevalence for MODY 2 and 3. Each form of MODY has been associated with one gene.

This P357-A3 MODY Mix 2 probemix contains probes for the PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4 and INS genes. This probemix is therefore specific for MODY 4-10. In addition, 10 reference probes are included in this probemix, detecting 10 different autosomal chromosomal locations.

The widely used probemix P241 MODY Mix 1 contains probes for the HNF4A, GCK, HNF1A and HNF1B genes involved in MODY types 1-3 and 5, the more frequent causes of MODY. For these genes a clear relation has been described between copy number changes of the genes and the MODY phenotype or the renal cysts and diabetes (RCAD) syndrome.

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
P357-025R
SALSA MLPA Probemix P357 MODY Mix 2 – 25 rxn
€ 243.00
P357-050R
SALSA MLPA Probemix P357 MODY Mix 2 – 50 rxn
€ 486.00
P357-100R
SALSA MLPA Probemix P357 MODY Mix 2 – 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 ME033 TNDM

Contains probes for several genes involved in transient neonatal diabetes mellitus, including the INS gene.

SALSA MLPA Probemix P117 ABCC8

Contains probes for the ABCC8 gene, involved in familial hyperinsulinemic hypoglycemia 1.

SALSA MLPA Probemix P241 MODY Mix 1

Contains probes for HNF4A, GCK, HNF1A and HNF1B genes, involved in MODY 1, 2, 3 and 5, respectively.

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