Genetic Testing
PanGenomics offers tests for over 2000 different genetic syndromes – connective tissue disorders, genetic causes of hearing or vision loss, anemia, muscular dystrophy, mitochondrial conditions, and metabolic disorders just to name a few. If a test is clinically available in the United States we can offer it for your patient.
Commonly Ordered Tests
Duchenne Muscular Dystrophy (DMD) – This condition is highly prevalent in India. DMD is an X-linked condition. This means that the mutation that causes this condition is located on the X chromosomes. Women with a mutation in the dystrophin gene are usually not symptomatic but have a 50% chance to pass the mutation on to each of their children. If that child is a boy he will develop DMD. We can test boys who are at risk or suspected to have DMD and women who want to know if they are at risk to have an affected child
Thalassemia – 1 in 14 people are carriers for Thalassemia. Each year more than 32,000 babies are born with a serious hemoglobinopathy in India. Testing can determine if your patient is affected or if they are at risk to have a child with a hemoglobinopathy. Therapy is available and with early management the patient can reduce the risk of more serious complications.
Fragile X – Fragile X is the most common inherited form of intellectual disability. Most women who are carriers typically have no symptoms and may not even know they are at risk to have a child with Fragile X. If a woman learns that she is a carrier for this condition it can help her and her spouse make decisions about whether prenatal genetic testing – to find out if their child will be affected – is right for their family.