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P241 MODY Mix 1

SALSA® MLPA® Probemix P241 MODY Mix 1 detects copy number variations in the HNF4A, GCK, HNF1A, and HNF1B genes.

Specifications

Contents: 52 MLPA probes, including 12 probes target HNF4A, 11 probes for GCK, 11 probes for HNF1A and 10 probes for HNF1B.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: maturity-onset diabetes of the young (MODY) type 1, 2, 3, and 5.

IVDD certified and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

ME033 TNDM

Contains probes for the INS gene (MODY 10), the KCNJ11 gene (MODY 13) and other genes related to transient neonatal diabetes mellitus.

P117 ABCC8

Contains probes for the ABCC8 gene (MODY 12), involved in familial hyperinsulinemic hypoglycemia 1.

P297 Microdeletion Syndromes-2

Contains probes for the HNF1B gene (MODY 5) and other genes involved in several microdeletion syndromes.

View all

Intended purpose

The SALSA MLPA Probemix P241 MODY Mix 1 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the HNF4A, GCK, HNF1A, and HNF1B genes in order to confirm a potential cause for and clinical diagnosis of Maturity-Onset Diabetes of the Young (MODY) type 1, 2, 3, and 5, respectively, and for molecular genetic testing of at-risk family members. It is intended for use with genomic DNA isolated from human peripheral whole blood specimens.

For the full intended purpose, see the product description.

Clinical background

Maturity-onset diabetes of the young (MODY) is a group of inherited disorders of non-autoimmune diabetes mellitus which usually present in adolescence or young adulthood. MODY presents genetic, metabolic and clinical heterogeneity, however most cases share characteristics like β-cell dysfunction with an autosomal dominant inheritance and early-onset (typically <35 years) of hyperglycaemia that is not insulin-dependent at point of diagnosis. Other characteristics include extrapancreatic features and absence of pancreatic autoimmunity markers. MODY is thought to account for at least 1-3% of all diabetes.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK500456/ and https://www.nature.com/articles/ejhg201414.

To date it has been proposed that pathogenic variants in at least 14 genes cause MODY. Each subtype is linked to a different gene. A portion of MODY may be caused by pathogenic variants in yet-to-be-identified genes or complex molecular alterations in the known MODY-related genes that were not detected by previous genetic testing methods. The four most common genetic causes of MODY are pathogenic variants in GCK (MODY 2) and HNF1A (MODY 3), each accounting for 30%-60% of all MODY, and HNF4A (MODY 1) and HNF1B (MODY 5 or renal cysts and diabetes (RCAD) syndrome), together accounting for about 10% of all MODY. MODY 5, also known as RCAD syndrome, is characterised by diabetes and nondiabetic renal disease resulting from abnormal renal development. Whole HNF1B gene deletions form a high proportion of RCAD cases. Other genes involved in MODY are listed in the table below.

MODY subtype Gene Description
MODY 1 HNF4A The protein encoded by this gene regulates the expression of HNF1A. Pathogenic variants lead to β-cell dysfunction (mainly insulin secretory defect). Probes for HNF4A are included in this P241 probemix.
MODY 2 GCK Pathogenic variants lead to β-cell dysfunction (glucose-sensing defect). Probes for GCK are included in this P241 probemix.
MODY 3 HNF1A Pathogenic variants lead to β-cell dysfunction (mainly insulin secretory defect). Probes for HNF1A are included in this P241 probemix.
MODY 4 PDX1 Pathogenic variants lead to β-cell dysfunction. Probes for PDX1 are included in the P357 probemix.
MODY 5 (RCAD) HNF1B Pathogenic variants lead to β-cell dysfunction. Probes for HNF1B are included in this P241 probemix and in the P357 probemix.
MODY 6 NEUROD1 Pathogenic variants lead to β-cell dysfunction. Probes for NEUROD1 are included in the P357 probemix.
MODY 7 KLF11 Pathogenic variants lead to decreased glucose sensitivity of β-cells. Probes for KLF11 are included in the P357 probemix.
MODY 8 CEL Pathogenic variants lead to pancreatic endocrine and exocrine dysfunction. Probes for CEL are included in the P357 probemix.
MODY 9 PAX4 Pathogenic variants lead to β-cell dysfunction. Probes for PAX4 are included in the P357 probemix.
MODY 10 INS Pathogenic variants lead to β-cell dysfunction. Probes for INS are included in the P357 probemix.
MODY 11 BLK Pathogenic variants lead to an insulin secretion defect.
MODY 12 ABCC8 Pathogenic variants lead to ATP-sensitive potassium channel dysfunction. Probes for ABCC8 are included in the P117 probemix.
MODY 13 KCNJ11 Pathogenic variants lead to ATP-sensitive potassium channel dysfunction. Probes for KCNJ11 are included in the ME033 probemix.
MODY 14 APPL1 Pathogenic variants lead to an insulin secretion defect.

Regulatory status

SALSA MLPA Probemix P241 MODY Mix 1 is CE-marked under the IVDD for in vitro diagnostic (IVD) use in Europe. This assay has also been registered for IVD use in Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version E1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P241-025R
SALSA MLPA Probemix P241 MODY Mix 1 – 25 rxn
MLPA
€ 286.00
P241-050R
SALSA MLPA Probemix P241 MODY Mix 1 – 50 rxn
MLPA
€ 560.00
P241-100R
SALSA MLPA Probemix P241 MODY Mix 1 – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below have been tested with the current (E1) version of this product and have been shown to produce useful results.

GCK

  • Coriell NA07081: Heterozygous duplication affecting all GCK probes on chromosome 7p.
  • Coriell NA10925: Heterozygous deletion affecting all GCK probes on chromosome 7p.
  • Coriell NA10951: Heterozygous deletion affecting all GCK probes on chromosome 7p.

HNF1B

  • Coriell NA20359: Heterozygous duplication affecting all HNF1B probes on chromosome 17q.

HNF4A

  • Coriell NA07945: Heterozygous deletion affecting all HNF4A probes on chromosome 20q.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P241 MODY Mix 1

  • Baretic M et al. (2023). Genetic and Clinical Characterization of Patients with HNF1B-Related MODY in Croatia. J Pers Med. 13:1063.
  • Carette C et al. (2010). Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies. Diabet Med. 27:1454-8.
  • Colclough K et al. (2022). Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes. 71:530-7.
  • Dotto RP et al. (2016). Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations. Diabetes Res Clin Pract. 116:100-4.
  • Edghill EL et al. (2013). HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet Med. 30:114-7.
  • Horikawa Y et al. (2014). Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese. Diabet Med. 31:721-7.
  • Hua Tan CS et al. (2022). MODY5 Hepatocyte Nuclear Factor 1β (HNF1β)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore. J Investig Med High Impact Case Rep. 10:23247096211065626.
  • Tatsi C et al. (2013). The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations. Pediatr Diabetes. 14:526-34.
  • Yorifuji T et al. (2012). Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes. 13:26-32.
  • Yorifuji T et al. (2023). Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes. J Diabetes Investig. 14:387-403.
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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

IL

IVD-registered in Israel.