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Test Catalog
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.
F822P - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Mutation Analysis, Prenatal
Prenatal testing for hemophilia A when a F8 intron 22 inversion has been identified in a family member
F8INP - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal
Prenatal testing for hemophilia A when a variant has not been identified in the family
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...
AVWPR - Overview: von Willebrand Disease Profile, Plasma
Detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1 (most common), type 2 variants (less common), or type 3...
SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...
ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma
Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII...
AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...
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, Discusses New Lab Testing Options to Evaluate IBS-D Patients - Insights
Management" on new laboratory testing options to evaluate irritable bowel syndrome with diarrhea (IBS-D) patients. ...
Ph.D., DABCC, Discusses Laboratory Testing for IBS in Clinical Laboratory News - Insights
Leslie Donato, Ph.D., DABCC, Co-Director of the Cardiovascular Laboratory Medicine and Co-Director of the Hospital Clinical Laboratory and Point-of-Care Testing at Mayo Clinic in Rochester, recently authored an article in Clinical...
Bile acid malabsorption - Insights
irritable bowel syndrome (IBS), Celiac disease, infectious GI pathogens, and malignancy. When other causes of chronic diarrhea have been excluded, a diagnosis of IBS-diarrhea (IBS-D) should be considered...considered. One main cause of...
Calprotectin and Inflammatory Bowel Disease - Insights
syndrome (IBS). While the clinical presentation is similar, IBD is an inflammatory disease, while IBS is a noninflammatory disease. View this "Hot Topic" to learn about testing for IBD and IBS....
Diagnosis and inflammation monitoring - Insights
arouse clinical suspicion of either inflammatory bowel disease (IBD) or irritable bowel syndrome (IBS) are both common and tough to differentiate....