MTHFR If you know anyone with Down Syndrome, or if you are a physician interested in collaboration, please get in touch with the ORDI team. Contact for Free Diagnostic test of Gaucher...
Prenatal Diagnosis of Lamellar Icthyosis If you know anyone with Lamellar Ichthyosis, or if you are a physician interested in collaboration, please get in touch with the ORDI team. Contact...
Indian Children with Neuroregression attending a genetic centre Lysosomal storage disorders in NIHF If you know anyone with Lysosomal Storage Disorders, or if you are a physician interested in collaboration,...
GM2 Activator protein deficiency as a cause of Tay Sachs disease If you know anyone with GM2 Gangliosidosis, or if you are a physician interested in collaboration, please get in...
Del Dupli Hexa Gene If you know anyone with Tay-Sachs, or if you are a physician interested in collaboration, please get in touch with the ORDI team. Contact for Free Diagnostic test...
Sjögren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body’s own tissues and organs. In Sjögren syndrome, the...
Niemann–Pick diseases are a group of inherited, severe metabolic disorders in which sphingomyelin accumulate in lysosomes inside cells. This disease involves dysfunctional metabolism of sphingolipids. The three most commonly recognized forms are Niemann-Pick Types A and...
Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to communicate, resulting in a range of signs and symptoms. Specific...
Moebius Syndrome (also spelled Möbius) is an extremely rare congenital neurological disorder that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may...
What are disorders of Inborn errors of metabolism? Inborn Errors of Metabolism (IEM) comprise a group of disorders in which a single gene defect causes a clinically significant block in...
