In general, Genetic testing refers to the examination of specific bits of DNA that have a known function, usually in a protein-coding gene. Genetic testing requires that an investigator know which gene or genes to look at, based on some prior understanding of the underlying biological contribution to a trait or disease. Clinical (Medical) genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. It also refers to the application of genetics to medical care such as diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Carrier Screening Expanded Panel
Carrier screening is a genetic test used to identify carrier couples and individuals at risk for passing genetic disorders to their children. These genetic disorders may cause babies to have physical disability, cognitive impairment, and other severe health problems. The panel screens for more than 300 conditions not specific to any one population although, some diseases are more common than others or more common to a specific ethnic group. These conditions vary in morbidity, mortality and treatment.
Comprehensive Cardiovascular Panel
This is a comprehensive genetic diagnostic tool developed to cover a wide spectrum of heart-related conditions, including arrhythmias and cardiomyopathies.
Diabetes is a group of not well-understood disorders characterized by abnormal glucose levels. As a complex disease, diabetes is the result of the interplay between the individual’s genetic make-up and the environment and there are multiple genes that are known to be associated with this condition; thus, a multigene panel represents a cost-effective option to identify the genetic cause of diabetes.
Inherited Disease Panel
Broad genetic survey test for investigating general susceptibility and/or carrier condition for the included Mendelian disorders. 300 genes associated with >700 inherited diseases, including neuromuscular, metabolic, cardiovascular, and developmental diseases.
New Born Genetic Analysis
Newborn Genetic Analysis (NGA) is a highly sophisticated and sensitive genetic test that identifies DNA changes that can cause infants to develop severe or life-altering conditions. Since many of these disorders are not apparent at birth, this test can help screen for these conditions, where early detection, intervention, and management are essential for the infant’s overall health and quality of life. This analysis includes 255 genes and assesses over 200 disorders, covering many conditions beyond state legislated standards for newborn screening.
Non-Invasive Prenatal Test (NIPT)
Prenatal test is the most broadly studied cell-free DNA-based maternal blood test. Clinical studies have been done in more than 22,000 women of all ages and over 400,000 pregnancies tested worldwide. It is a new option in prenatal screening. The screening test can be done as early as 10 Weeks of pregnancy.
Parkinson-Alzheimer-Dementia NGS Panel
There are numerous genes associated with dementia, Alzheimer and Parkinson disease. While some of them present particular manifestations that might aid an accurate diagnosis, most of the time, the clinical presentation exhibits common characteristics, making difficult to establish a precise diagnosis.
Renal-Urinary Comprehensive Cancer Panel
The Renal/ Urinary Cancer Comprehensive Panel examines 27 genes associated with an increased risk for hereditary renal tumors or cancer, as well as tumors or cancers of the urinary tract. This test includes both well-established cancer susceptibility genes, as well as candidate genes with limited evidence of an association where additional research is needed.
Retinal Degeneration Panel
Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. Mutations in any of the genes responsible for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with retinitis pigmentosa. Rods typically break down before cones, which is why night vision impairment is usually the first sign of the disorder. Daytime vision is disrupted later, as both rods and cones are lost. Retinitis pigmentosa often has an autosomal dominant, or autosomal recessive , or X-linked pattern.
Targeted Mutation Screening
The test identifies the mutated gene or genes causing a genetic disease in your family. The identification of a gene mutation(s) allows for further steps to be taken to prevent the passing on of the condition to future generations and may aid in the improvement of treatment of an affected individual.