Código |
Descripción |
|---|---|
0020M |
Oncology (central nervous system), analysis of 30000 DNA methylation loci by methylation array, utilizing DNA extracted from tumor tissue, diagnostic algorithm reported as probability of matching a reference tumor subclass |
0421U |
Oncology (colorectal) screening, quantitative real-time target and signal amplification of 8 RNA markers (GAPDH, SMAD4, ACY1, AREG, CDH1, KRAS, TNFRSF10B, EGLN2) and fecal hemoglobin, algorithm reported as a positive or negative for colorectal cancer risk |
0422U |
Oncology (pan-solid tumor), analysis of DNA biomarker response to anti-cancer therapy using cell-free circulating DNA, biomarker comparison to a previous baseline pre-treatment cell-free circulating DNA analysis using next-generation sequencing, algorithm reported as a quantitative change from baseline, including specific alterations, if appropriate |
0425U |
Genome (e.g., unexplained constitutional or heritable disorder or syndrome), rapid sequence analysis, each comparator genome (e.g., parents, siblings) |
0426U |
Genome (e.g., unexplained constitutional or heritable disorder or syndrome), ultra-rapid sequence analysis |
0428U |
Oncology (breast), targeted hybrid-capture genomic sequence analysis panel, circulating tumor DNA (ctDNA) analysis of 56 or more genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability, and tumor mutation burden |
0429U |
Human papillomavirus (HPV), oropharyngeal swab, 14 high-risk types (i.e., 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, and 68) |
0434U |
Drug metabolism (adverse drug reactions and drug response), genomic analysis panel, variant analysis of 25 genes with reported phenotypes |
0435U |
Oncology, chemotherapeutic drug cytotoxicity assay of cancer stem cells (CSCs), from cultured CSCs and primary tumor cells, categorical drug response reported based on cytotoxicity percentage observed, minimum of 14 drugs or drug combinations |
0436U |
Oncology (lung), plasma analysis of 388 proteins, using aptamer-based proteomics technology, predictive algorithm reported as clinical benefit from immune checkpoint inhibitor therapy |
0437U |
Psychiatry (anxiety disorders), mRNA, gene expression profiling by RNA sequencing of 15 biomarkers, whole blood, algorithm reported as predictive risk score |
0438U |
Drug metabolism (adverse drug reactions and drug response), buccal specimen, gene-drug interactions, variant analysis of 33 genes, including deletion/duplication analysis of CYP2D6, including reported phenotypes and impacted gene-drug interactions |
0439U |
Cardiology (coronary heart disease [CHD]), DNA, analysis of 5 single-nucleotide polymorphisms (SNPS) (rs11716050 [loc105376934], rs6560711 [wdr37], rs3735222 [scin/loc107986769], rs6820447 [intergenic], and rs9638144 [esyt2]) and 3 DNA methylation markers (cg00300879 [transcription start site {tss200} of cnksr1], cg09552548 [intergenic], and cg14789911 [body of spatc1l]), qPCR and digital PCR, whole blood, algorithm reported as a 4-tiered risk score for a 3-year risk of symptomatic CHD |
0441U |
Infectious disease (bacterial, fungal, or viral infection), semiquantitative biomechanical assessment (via deformability cytometry), whole blood, with algorithmic analysis and result reported as an index |
0442U |
Infectious disease (respiratory infection), myxovirus resistance protein a (MXA) and c-reactive protein (CRP), fingerstick whole blood specimen, each biomarker reported as present or absent |
0443U |
Neurofilament light chain (NfL), ultra-sensitive immunoassay, serum or cerebrospinal fluid |
0445U |
B-amyloid (abeta42) and phospho tau (181p) (ptau181), electrochemiluminescent immunoassay (ECLIA), cerebral spinal fluid, ratio reported as positive or negative for amyloid pathology |
0448U |
Oncology (lung and colon cancer), DNA, qualitative, next generation sequencing detection of single-nucleotide variants and deletions in egfr and kras genes, formalin-fixed paraffin-embedded (FFPE) solid tumor samples, reported as presence or absence of targeted mutation(s), with recommended therapeutic options |
0449U |
Carrier screening for severe inherited conditions (e.g., cystic fibrosis, spinal muscular atrophy, beta hemoglobinopathies [including sickle cell disease], alpha thalassemia), regardless of race or self-identified ancestry, genomic sequence analysis panel, must include analysis of 5 genes (cftr, smn1, hbb, hba1, hba2) |
0450U |
Oncology (multiple myeloma), liquid chromatography with tandem mass spectrometry (LCMS/MS), monoclonal paraprotein sequencing analysis, serum, results reported as baseline presence or absence of detectable clonotypic peptides |
0451U |
Oncology (multiple myeloma), LCMS/MS, peptide ion quantification, serum, results compared with baseline to determine monoclonal paraprotein abundance |
0452U |
Oncology (bladder), methylated PENK DNA detection by linear target enrichment-quantitative methylation-specific real-time PCR (LTE-qMSP), urine, reported as likelihood of bladder cancer |
0453U |
Oncology (colorectal cancer), cell-free DNA (cfDNA), methylation based quantitative PCR assay (SEPTIN9, IKZF1, BCAT1, Septin9-2, VAV3, BCAN), plasma, reported as presence or absence of circulating tumor DNA (ctDNA) |
0454U |
Rare diseases (constitutional/heritable disorders), identification of copy number variations, inversions, insertions, translocations, and other structural variants by optical genome mapping |
0455U |
Infectious agents (sexually transmitted infection), Chlamydia trachomatis, Neisseria gonorrhoeae, and Trichomonas vaginalis, multiplex amplified probe technique, vaginal, endocervical, gynecological specimens, oropharyngeal swabs, rectal swabs, female or male urine, each pathogen reported as detected or not detected |
0456U |
Autoimmune (rheumatoid arthritis), next-generation sequencing (NGS), gene expression testing of 19 genes, whole blood, with analysis of anticyclic citrullinated peptides (CCP) levels, combined with sex, patient global assessment, and body mass index (BMI), algorithm reported as a score that predicts nonresponse to tumor necrosis factor inhibitor (TNFi) therapy |
0459U |
β-amyloid (Abeta42) and total tau (tTau), electrochemiluminescent immunoassay (ECLIA), cerebral spinal fluid, ratio reported as positive or negative for amyloid pathology |
0460U |
Oncology, whole blood or buccal, DNA single-nucleotide polymorphism (SNP) genotyping by real-time PCR of 24 genes, with variant analysis and reported phenotypes |
0461U |
Oncology, pharmacogenomic analysis of single-nucleotide polymorphism (SNP) genotyping by real-time PCR of 24 genes, whole blood or buccal swab, with variant analysis, including impacted gene-drug interactions and reported phenotypes |
0464U |
Oncology (colorectal) screening, quantitative real-time target and signal amplification, methylated DNA markers, including LASS4, LRRC4 and PPP2R5C, a reference marker ZDHHC1, and a protein marker (fecal hemoglobin), utilizing stool, algorithm reported as a positive or negative result |
0465U |
Oncology (urothelial carcinoma), DNA, quantitative methylation specific PCR of 2 genes (ONECUT2, VIM), algorithmic analysis reported as positive or negative |
0466U |
Cardiology (coronary artery disease [CAD]), DNA, genome wide association studies (564856 single-nucleotide polymorphisms [SNPs], targeted variant genotyping), patient lifestyle and clinical data, buccal swab, algorithm reported as polygenic risk to acquired heart disease |
0467U |
Oncology (bladder), DNA, next generation sequencing (NGS) of 60 genes and whole genome aneuploidy, urine, algorithms reported as minimal residual disease (MRD) status positive or negative and quantitative disease burden |
0468U |
Hepatology (nonalcoholic steatohepatitis [NASH]), miR-34a5p, alpha 2-macroglobulin, YKL40, HbA1c, serum and whole blood, algorithm reported as a single score for NASH activity and fibrosis |
0469U |
Rare diseases (constitutional/heritable disorders), whole genome sequence analysis for chromosomal abnormalities, copy number variants, duplications/deletions, inversions, unbalanced translocations, regions of homozygosity (ROH), inheritance pattern that indicate uniparental disomy (UPD), and aneuploidy, fetal sample (amniotic fluid, chorionic villus sample, or products of conception), identification and categorization of genetic variants, diagnostic report of fetal results based on phenotype with maternal sample and paternal sample, if performed, as comparators and/or maternal cell contamination |
0471U |
Oncology (colorectal cancer), qualitative real-time PCR of 35 variants of KRAS and NRAS genes (exons 2, 3, 4), formalin-fixed paraffin-embedded (FFPE), predictive, identification of detected mutations |
0472U |
Carbonic anhydrase VI (CA VI), parotid specific/secretory protein (PSP) and salivary protein (SP1) IgG, IgM, and IgA antibodies, enzyme-linked immunosorbent assay (ELISA), semiqualitative, blood, reported as predictive evidence of early Sjögren syndrome |
0474U |
Hereditary pan-cancer (e.g., hereditary sarcomas, hereditary endocrine tumors, hereditary neuroendocrine tumors, hereditary cutaneous melanoma), genomic sequence analysis panel of 88 genes with 20 duplications/deletions using next generation sequencing (NGS), Sanger sequencing, blood or saliva, reported as positive or negative for germline variants, each gene |
0475U |
Hereditary prostate cancer related disorders, genomic sequence analysis panel using next-generation sequencing (NGS), Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridization (CGH), evaluation of 23 genes and duplications/deletions when indicated, pathologic mutations reported with a genetic risk score for prostate cancer |
