NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

CMA - Overview: Centromere Antibodies, IgG, Serum

Evaluating patients with features of systemic autoimmune rheumatic disease, particularly systemic sclerosis, Sjogren's syndrome, or overlap disease Aiding in the phenotypic stratification of patients with systemic sclerosis (limited...

CMVQN - Overview: Cytomegalovirus (CMV) DNA Detection and Quantification by Real-Time PCR, Plasma

Detection and quantification of cytomegalovirus (CMV) viremia Monitoring CMV disease progression and response to antiviral therapy

ML1HM - Overview: MLH1 Hypermethylation Analysis, Tumor

An adjunct to TMSI / Microsatellite Instability, Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor when colon or endometrial tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...

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...

PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine

Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...

CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12

CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12

CFTRN - Overview: Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies

Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...

RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid

Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease