Predictive genetic testing searches for genetic changes, or mutations that are linked to disease. These tests are done before you show any signs of a disease. These tests represent a new and growing class of medical tests, differing in fundamental ways from conventional medical diagnostic tests. The hope underlying such testing is that early identification of individuals at risk of a specific condition will lead to reduced morbidity and mortality through targeted screening, surveillance, and prevention.
TYPE 2 DIABETES
Genetic predisposition DNA testing for type 2 diabetes is useful for identifying those who are most likely to develop the condition. The gene mutations can interact with the environment and each other to further increase risk.
This test identified genes that either were associated with osteoporosis-related conditions, such as low bone mass and bone fractures, or had a documented role in bone turn over. Mutation analysis helps in prediction of osteoporotic risk.
Lactase activity persistence in adults is associated with two polymorphisms: C/T 13910 and G/A 22018 located in the MCM6 gene. Genetic tests may be useful in assessing whether a person has primary lactose intolerance
This can be tested by patients’ DNA to identify specific genetic variants associated with an increased risk of developing certain heart-related health conditions such as hypertension, atrial fibrillation and myocardial infarction.
APOLIPOPROTEIN B (APOB)
The apolipoprotein B (apo B) test is used, along with other lipid tests, to help determine an individual’s risk of developing cardiovascular disease (CVD). Genetic mutations in apoB gene are identified and risk is predicted.
CYSTIC FIBROSIS DELTAF508
Delta-F508 (F508del-CFTR) is a specific mutation within the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). This test provides a quick and cost-effective screen for deltaF508, the most common CFTR mutation.
Fragile X syndrome is caused by expansion and subsequent methylation of a CGG trinucleotide repeat in the FMR1 5′-untranslated region. Triple-primed PCR assays is the preferred fragile X syndrome testing method.
SMA - SMN1 GENE
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene. This is real time PCR test to find out gene copy number.
SICKLE CELL ANEMIA
Sickle cell anemia (SCA) is caused by the substitution of a single acidic amino acid, Glu to Val. We perform PCR and capillary sequencing based analysis for detection of mutation responsible for SCA.
DMD - DYSTROPHIN
Mutations of the dystrophin DMD gene are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies. This test identified DMD gene mutations.