It is normal to be a carrier for a handful of genetic diseases without your daily life being impacted. In fact, most individuals can be carriers for genetic disease even without a family history of the disease. Identifying carriers allows reproductive
choices. Your chance of passing on a condition to your child depends on your carrier status, the carrier status of your partner, and the mode of inheritance for each specific disease. Genetic counseling and education should accompany testing because of the potential for personal and social concerns.
Carrier Screening Test
Carrier screening analyzes 571 unique genes for mutations that are known to cause 210 genetic conditions encompassing more than 400 genetic diseases. The majority of the conditions included in Carrier Screening are inherited in an autosomal recessive pattern.
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.
Pan Ethnic Carrier Screen
Pan Ethnic Carrier Screen is the most comprehensive genetic carrier screen for common diseases . It examines around 2000+ common mutations across 250+ genetic diseases, including Cystic Fibrosis, Sickle Cell Disease, Thalassemia, Spinal Muscular Atrophy, Tay-Sachs Disease. and Fragile X Syndrome. Many of the diseases included in the panel can shorten life expectancy and/or cause physical or cognitive impairment if left undiagnosed &/or untreated.
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.
Whole Exome Sequencing
Exome (the protein-coding region of the human genome) represents less than 2% of the genetic code, but contains ~85% of known disease-related variants, making whole-exome sequencing a cost-effective alternative to whole-genome sequencing. Whole Exome Sequencing test is a highly complex test that is developed for the identification of changes in a patient’s DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the Whole Exome Sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques.