HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies
Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased transferrin-iron saturation in serum and serum ferritin Predictive testing of individuals who have a...
GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood
Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results
GAL1P - Overview: Galactose-1-Phosphate, Erythrocytes
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma
Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...
GAES - Overview: Ganglioside Antibodies Evaluation, Serum
Supporting the diagnosis of an autoimmune neuropathy
MPS3B - Overview: Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC This test is not useful for carrier detection.
SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue
Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas
MSTF - Overview: Myeloid Sarcoma, FISH, Tissue
Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation
MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.
MSH6 - Overview: MSH6 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
February 2020 - Laboratory Genetics & Genomics - Insights
A 71 yr old female with a history of a central nervous system lymphoma, an allogenic stem cell transplant and graft versus host disease was tested for...
inflammatory-bowel-disease-diagnostic-testing-algorithm.pdf
YES <50 mcg/g <50 mcg/g Abnormal >50 mcg/g Normal ANCA present ASCA IgG and IgA absent ANCA absent ASCA IgG or IgA present ANCA absent ASCA IgG or IgA absent >120 mcg/g50-120 mcg/g NO Assessing a patient...
Find out how our sarcoma panel assesses gene mutations and fusions described in more than 50 types of soft tissue, bone, and other mesenchymal tumors....
July 2019 — Cardiovascular - Insights
A 50-year-old man who was known to have systemic hypertension developed sudden onset of severe back pain with associated diaphoresis. He lost...
Mayo Clinic’s Neuro-Oncology practice, the Division of Laboratory Genetics and Genomics tests about 50 brain tumors a week, and upwards of 1,500 brain tumors a year from all over the world....