Frequent nosebleeds, easy bruising and heavy periods prompt a CBC, PT, aPTT and platelet function studies, with genetic testing to confirm the specific mutation.
SCID, CVID, XLA, CGD and DiGeorge Syndrome sit among more than 400 inherited immune disorders; blood counts, immunoglobulin levels and gene testing point to a diagnosis.
Chromosomal microarray, whole exome sequencing and targeted gene panels are the tests used to look for a genetic cause once intellectual disability is diagnosed.
Fatigue, fever, hematuria and swelling can signal inflammation around the kidney tubules; blood work, imaging, biopsy and genetic testing are each explained.
Diseases of the heart muscle itself, from thickened walls to enlarged chambers, are sorted by imaging, ECG and biopsy; sarcomere gene testing refines the diagnosis.
Explore iron deficiency anemia, its diagnosis, and how genetic testing uncovers underlying causes. Learn how to manage anemia effectively with personalized treatment.
Isolated Congenital Growth Hormone Deficiency (ICGHD) is a rare genetic disorder characterized by the inadequate secretion of growth hormone (GH) from the pituitary gland.
Discover the role of genetic testing in diagnosing KCNQ3-related developmental disability, its symptoms, and the benefits of early detection for personalized treatment.