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MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies

Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members

NGSHM - Overview: MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies

Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias)...

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...

HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...

LUCHM - Overview: LiquidHALLMARK ctDNA and ctRNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with a solid tumor This test is not useful for...

MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

MEV1 - Overview: Methemoglobinemia Evaluation, Blood

Diagnosis of methemoglobinemia and sulfhemoglobinemia and possible hereditary (congenital) causes Differentiation of methemoglobinemia and sulfhemoglobinemia from other causes of cyanosis (eg, congenital heart disease)

COGTF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...

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Week in Review: January 20 - Insights

Topic highlights include: Phoenix Children’s opens specialty clinic at Avondale campus, Moderna says RSV vaccine is effective in older adults, WHO questions severity of XBB.1.5 COVID subvariant as U.S. cases rise

Week in Review: May 20 - Insights

Today's highlights include: US at risk of COVID-19 drug shortages this summer, Rochester startup Vyriad developing cancer-fighting viruses, and CDC expresses concern about possibility of undetected monkeypox spread in U.K.

Testing Archives - Page 20 of 26 - Insights

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Research Roundup Archives - Page 20 of 29 - Insights

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What's New in Health Care Reform: Feb. 20 - Insights

Top highlights include: Flu shot kept about 50% from going to doctor, racial disparities in cancer incidence and survival rates are narrowing, having anesthesia once as a baby does not cause learning disabilities, personalized diet predicts...