Genetic test to determine predisposition to inherited diabetes, ways to prevent and establish effective therapy.
Diabetes mellitus, commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period. The disease is the 8th leading cause of death worldwide. Diabetes is due to either the pancreas not producing enough insulin (primary hormone regulating blood glucose uptake in most body cells, especially liver, adipose tissue and muscles), or the cells of the body not responding properly to the insulin produced.
Symptoms and conditions associated with diabetes are:
- Insulin-dependent diabetes mellitus
- Insulin-independent diabetes mellitus
- Neonatal diabetes mellitus
- Familial hyperinsulinemic hypoglycemia
- Familial partial lipodystrophy
- Pancreatic agenesis and congenital heart defects
- Renal cysts, ocular and auditory abnormalities associated with glucose inotolerance
- Fanconi anemia
- Mitchell-Riley syndrome
- Wolfram syndrome
- Rabson-Mendenhall syndrome
- MELAS syndrome
NGDiabetes is based on target sequencing with innovative newly developed custom panel (Illumina design) with the partnership of Malinov Hospital’s genetic laboratory. The test is offering parallel analysis of 56 genes instead of one or more. The selected genes are suspected to play a key role in predisposing to diabetes and diabetes related conditions. The results are analyzed by using massive international data bases.
The test is highly informative and can be used to prevent the development or progression of existing diabetes and symptoms related to diabetes as well as to clarify the risks, allowing opportunity for prevention and early diagnosis among the youngest family members.
NGDiabetes is followed by thorough genetic consultation and detailed summary aimed at clarifying the customer’s information, discussing the results and redirecting the client to the appropriate specialist if needed.
The aim of NGDiabetes is to become part of our portfolio to offer general detailed care to our patients. We believe it is our mission to help prevent serious diseases or improve the quality of life when an illness is already present.
The genetic testing requires DNA isolation from blood.
Venous blood collection should be performed with the use of closed vacuum blood collection system, following standard sterile procedures in convenient clinical laboratory for the client, and transported at room temperature to our partner genetic laboratory. The blood should be collected in EDTA vacuum tubes (Ethylene DiamineTetraacetic A), which you will find in the test order kit. The sample volume should be no less than 4 ml.
The results will be completed within 4 to 8 weeks from the date of sample submission. You will receive e-mail informing you of the way you can access them. The cost of the test includes consultation with genetics practitioner trained in interpreting the results to help you understand your genetic predisposition to diabetes and diabetes related conditions. Our specialists will outline specific steps to prevent illness development or facilitate the treatment process.
The risk that exists in the presence of mutations in genes associated with diabetes and symptoms related to diabetes remains throughout the individual’s life. Therefore, the information that you receive is not temporary and applies permanently until the rest of your life. However, in most cases, the risk increases with age. The genetic test cannot predict the exact moment in which the disease will develop but gives enough information about the risk.
The benefits of testing for genetic predisposition to diabetes and diabetes related conditions are:
- Determining the risk of developing diabetes
- Taking appropriate steps to reduce the risk
- Predicting which family members are at risk and should be tested
- Monitoring family members with family history of diabetes or high blood sugar levels over a prolonged period
- Identifying the cause of diabetes in families
- Clarifying the diagnosis
- Finding a suitable specialist
- Enabling rapid treatment start and appropriate therapy
- Changing current treatment if necessary
The American Association of Clinical Endocrinologists recommends screening for diabetes in the following cases:
- Taking antipsychotic therapy for schizophrenia and/or severe bipolar disorder
- Cardiovascular disease or family history of type 2 diabetes
- Chronic exposure to glucocorticoids
- Low levels of HDL cholesterol
- High levels of triglycerides
- History of gestational diabetes mellitus or birth of a child weighing more than 4.1 kg
- Impaired glucose tolerance
- Metabolic syndrome
- Rare racial or ethnic group: Asian, African American, Spanish, Indian or Pacific Islander origin
- Non-alcoholic fatty liver disease
- Overweight or obesity
- Polycystic ovarian syndrome
- Sedentary way of life
NGDiabetes targets 56 key genes, previously linked to predisposition towards different types of diabetes mellitus and related to diabetes conditions.
Targeted genes and influence of encoded proteins
- HumanGeneMutationDatabase (HGMD) (http://www.hgmd.cf.ac.uk/ac/index.php)
- ShortGeneticVariationsdatabase (dbSNP) (http://www.ncbi.nlm.nih.gov/projects/SNP/)
- OMIM (http://www.ncbi.nlm.nih.gov/omim)
- NHLBI ExomeSequencing Project (ESP) ExomeVariant Server (http://evs.gs.washington.edu/EVS/)
- ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/)
International Standards and Guidelines for the interpretation and reporting of sequence variants:
- Pathogenic variants – mutations that lead to disease and are associated with particular disease phenotype
- Likely pathogenic variants – data in favor of pathogenic effect of the variations
- Variants of Unknown Significance – controversial pathogenicity data or insufficient data at the time of the study
- Likely benign variants – evidence against the pathogenic nature of the variants.
- Variants with clinical association – behavior of variants based on the individual or family history of the disease
Upon request of 3 or 4 genetic tests for the same person, you have the opportunity to get 20% discount on the price. The condition of discount is related to the technological process in genetic testing – part of the process is done only once, instead of several times. If you would like to take advantage of this option, please contact us before ordering.
Family Package – when ordering a minimum of 3 tests for three separate family members, you have the option of 10% discount. If you would like to take advantage of this option, please contact us before ordering
Please call us on +359 888 842 200 to find out more about our leasing options.