Search Results

Test Catalog

AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

CDS1 - Overview: CNS Demyelinating Disease Evaluation, Serum

Diagnosis of inflammatory demyelinating diseases (IDDs) with similar phenotype to neuromyelitis optica spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...

HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...

GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies

Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

EEST - Overview: Estradiol, Serum

All applications that require moderately sensitive measurement of estradiol: -Evaluation of hypogonadism and oligo-amenorrhea in females -Assessing ovarian status, including follicle development, for assisted reproduction protocols (eg, in...

QMPSS - Overview: Monoclonal Protein Study, Quantitative, Serum

Aiding in the diagnosis and monitoring of monoclonal gammopathies, when used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.

TIKLB - Overview: Tick-Borne Panel, Molecular Detection, PCR, Blood

Evaluating patients with suspected human monocytic ehrlichiosis, human granulocytic anaplasmosis, babesiosis, or Borrelia miyamotoi infection Evaluating patients with a history of, or suspected, tick exposure who are presenting with...

PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...

PSYQP - Overview: Psychotropic Pharmacogenomics Gene Panel, Varies

Individualizing selection and dosage of medications prescribed for treatment of depression and other psychiatric disorders based on genetic variation Identifying genetic variation in genes known to be associated with response and/or risk...

Site Search

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...

Soft tissue - Insights

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...

Neuro-oncology: An integrated approach to interpreting genetic information from brain tumor samples - Insights

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....