Diabetes (Mody) Testing
The CGX screen developed by medix labs is the comprehensive ensive cancer risk assessment test designed to determine your risk of developing up to 8 cancer types med with this critical genetic information as well as other medical and family facts, you can create a strategy to reduce your risks to develop one or more of these 8 prevelent cancers. Maturity-onset diabetes of the young (MODY) is a type of monogenic diabetes characterized by non-insulin-dependent diabetes and early onset (usually before age 35 ). Diabetes affects 29.1 million people in the United States or 9.3% of the population. The most common types of diabetes are type 1 and type 2. The genetic basis of these types of diabetes is largely unknown. The disease is thought to be the result of a combination of multiple genetic and environmental risk factors. Monogenic forms of diabetes are rare, accounting for approximately 2% of all diabetes cases. Genetic testing (NGS) can establish an accurate diagnosis and identify a genetic etiology, which has important implications for individualized management of symptoms and prognostic information for family members.
Symptoms & Causes
Diabetes is a disorder that results in elevated blood glucose. Over time, the disorder can cause various health problems, including diseases of the heart, kidneys, eyes, and nervous system. Monogenic forms of diabetes are caused by a mutation in a single gene. There are 14 known MODY genes, and three account for the majority of cases:
Mody 1
Mutations in the hepatocyte nuclear factor-4 alpha (HNF4A) gene cause a clinical presentation similar to HNF1A. However, mutations in this gene are much less common (less than 1 0% of MODY). Age of onset may be later, and there is not a low renal threshold. HNF4A mutations can also cause high birth weight in newborns and transient neonatal hypoglycemia. These patients are also more sensitive to sulfonylurea treatment. routinely performed.
Mody 2
- Mutations in the glucokinase gene (GCK) are the next most common cause of MODY, accounting for about 20-25% of cases. GCK encodes the glucokinase enzyme, which acts as the pancreatic glucose sensor. Mutations result in lifelong, stable, mild fasting hyperglycemia. HbA1C values are usually just above the high normal range . People with GCK mutations rarely require treatment. This type of MODY may be detected during pregnancy when glucose tolerance testing is routinely performed.
Mody 3
Mutations in the hepatocyte nuclear factor-l alpha (HNF1A) gene are the most common cause of MODY, accounting for about half of cases. This type is characterized by a progressive insulin secretory defect due to beta-cell failure.
Why does mody runs in family ?
MODY is typically inherited in an autosomal dominant manner. When a parent has a MODY mutation, each of her/his offspring have a 50% risk of inheriting the mutation. Mutations that occur de novo in an affected individual, reduced penetrance, and variable expressivity have been reported. Thus, the absence of a family history does not, by itself, rule out a diagnosis of MODY.
Why it's important to recognize ?
There are different types of MODY. By finding out which type of MODY a person has the most appropriate treatment for them can be determined. Knowing the type of MODY a person has also means we can advise them about how their diabetes will progress in the future. As it runs in families, it is important to advise other family members of their risk of inheriting it.
