BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...

MSCSF - Overview: Bacteria, Virus, Fungus, and Parasite Metagenomic Sequencing, Spinal Fluid

Detecting and identifying pathogenic organisms including bacteria, fungi, DNA viruses, RNA viruses, and parasites in cerebrospinal fluid This test is not recommended as a test of cure because nucleic acids may persist after successful...

CAMPC - Overview: Campylobacter Culture, Feces

Determining whether Campylobacter species may be the cause of diarrhea Reflexive testing for Campylobacter species from nucleic acid amplification test-positive feces This test is generally not useful for patients hospitalized more than...

CDPCR - Overview: Clostridioides difficile Toxin, PCR, Feces

Sensitive, specific, and rapid diagnosis of Clostridioides (Clostridium) difficile-associated diarrhea and pseudomembranous colitis The test is not recommended as a test of cure.

CLLMD - Overview: Chronic Lymphocytic Leukemia (CLL) Monitoring Minimal Residual Disease Detection, Flow Cytometry, Varies

Confirming the presence or absence of minimal residual disease in patients with known chronic lymphocytic leukemia who are either post-chemo/immunotherapy or post-bone marrow transplant

CMVLR - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Lower Respiratory

Rapid qualitative detection of cytomegalovirus (CMV) DNA in lower respiratory specimens This test is not intended for the monitoring of CMV disease progression or response to therapy.

CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH

Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change

CHRTI - Overview: Chromosome Analysis, Skin Biopsy

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities Subsequent chromosome analysis when results from peripheral blood are inconclusive

CITR - Overview: Citrate Excretion, 24 Hour, Urine

Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...