CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing
MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum
Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
TLTE4 - Overview: Leukotriene E4, 24 Hour, Urine
Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using 24-hour urine collections
INFXR - Overview: Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum
Trough level quantitation for evaluation of patients undergoing therapy with infliximab, with signs and symptoms of loss of response to therapy.
Only indicated for formalin-fixed paraffin-embedded specimens from patients diagnosed with large B-cell lymphoma
MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum
Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...
NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies
Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome
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...