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733500123 | 73350-01-23 | CFTR gene; variants | Cystic fibrosis transmembrane conductance regulator (CFTR) analysis of gene common variants (panel of mutations) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for gene mutations (e.g. cystic fibrosis) | null | null | null |
733500124 | 73350-01-24 | CFTR gene; Familial variant | Cystic fibrosis transmembrane conductance regulator (CFTR) analysis of common familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) (e.g. cystic fibrosis) | null | null | null |
733500125 | 73350-01-25 | CFTR gene; Dup/Del | Cystic fibrosis transmembrane conductance regulator (CFTR) duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for analysis of repeated or deleted nucleotides (e.g. cystic fibrosis) | null | null | null |
733500126 | 73350-01-26 | CFTR gene; Full Sequence | Cystic fibrosis transmembrane conductance regulator (CFTR) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequencing of a gene (e.g. cystic fibrosis) | null | null | null |
733500127 | 73350-01-27 | CFTR gene; Intron 8 poly–T | Cystic fibrosis transmembrane conductance regulator (CFTR) intron 8 poly–T mutation analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for gene mutations (e.g. cystic fibrosis) | null | null | Do not assign this code if testing for the 8-poly T intron was done in conjunction with (CFTR Gene; Variants) |
733500128 | 73350-01-28 | Chimerism test w/ Cell selection | Post transplantation chimerism test with cell selection (e.g. CD3, CD33) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Test for comparison of STR markers following transplantation to determine if engraftment was successful (utilizing cell selection) | null | null | null |
733500129 | 73350-01-29 | Chimerism test | Post transplantation chimerism test without cell selection | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Test for comparison of STR markers following transplantation to determine if engraftment was successful | null | null | null |
733500142 | 73350-01-42 | CNBP gene; Evaluation | CCHC-type zinc finger nucleic acid binding protein (CNBP) expanded sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for abnormal expanded alleles (e.g. myotonic dystrophy type 2). | null | null | null |
733500143 | 73350-01-43 | STR analysis | Evaluation of short tandem repeat (STR) markers (initial specimen) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | STR testing to compare genetic similarity of patient with another person (recipient/donor testing before transplantation, identical twins, maternal contamination in fetal cells) | null | null | Assign code for each testing for the patient and one comparative specimen (e.g. transplant donor) |
733500144 | 73350-01-44 | STR analysis; Additional specimens | Evaluation of Short Tandem Repeat (STR) markers (3 or more comparative specimens) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | STR testing to compare genetic similarity of patient with another person (recipient/donor testing before transplantation, identical twins, maternal contamination in fetal cells) | null | null | This is an additional code to be assigned with (STR Analysis) for each testing for the patient and additional comparative specimen (e.g. transplant donor). Do not report this code alone. |
733500145 | 73350-01-45 | CSTB gene; Evaluation | Cystatin B (CSTB) expanded sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for abnormal expanded alleles (e.g. Unverricht-Lundborg disease) | null | null | null |
733500146 | 73350-01-46 | CSTB gene; Full sequence | Cystatin B (CSTB) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. Unverricht-Lundborg disease) | null | null | null |
733500147 | 73350-01-47 | CSTB gene; Familial variant | Cystatin B (CSTB) analysis of common familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) | null | null | null |
733500131 | 73350-01-31 | CYP2C9 gene; variants | Cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9) common gene variants analysis (e.g. *2, *3, *5, *6) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for gene mutation (e.g. drug metabolism) | null | null | null |
733500132 | 73350-01-32 | CYP2C19 gene; variants | Cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19) common gene variants analysis (e.g. 2, *3, *4, *8, *17) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for gene mutation (e.g. drug metabolism) | null | null | null |
733500133 | 73350-01-33 | CYP2D6 gene; variants | Cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6) common gene variants analysis (e.g. *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for gene mutation (e.g. drug metabolism) | null | null | null |
733500134 | 73350-01-34 | CYP3A4 gene; variants | Cytochrome P450 family 3 subfamily A member 4 (CYP3A4) common gene variants analysis (e.g. *2, *22) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for gene mutation (e.g. drug metabolism) | null | null | null |
733500135 | 73350-01-35 | CYP3A5 gene; variants | Cytochrome P450 family 3 subfamily A member 5 (CYP3A5) common gene variants analysis (e.g. *2, *3, *4, *5, *6, *7) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for gene mutation (e.g. drug metabolism) | null | null | null |
733500148 | 73350-01-48 | Genome Analysis by CMA; CNV | Genome analysis by chromosomal microarray (CMA); including copy number variants (CNV) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Molecular karyotype by CMA for evaluation of copy number variants (CNV) (evaluation of range of possible genetic disorders in the entire genome) | DNA sequences | null | Do not assign this code with the following codes (Genome Analysis by CMA; CNV&SNP; WGS by NGS). Do not report code for a specific, target DNA sequence as this code includes all the tested DNA sequences. |
733500149 | 73350-01-49 | Genome Analysis by CMA; CNV&SNP | Genome analysis by chromosomal microarray (CMA); including copy number variants (CNV) and single nucleotide polymorphism (SNP) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Molecular karyotype by CMA for evaluation of copy number variants (CNV) and single nucleotide polymorphisms (SNPs) (evaluation of range of possible genetic disorders in the entire genome) | DNA sequences | null | Do not assign this code with the following codes (Genome Analysis by CMA; CNV; WGS by NGS). Do not report code for a specific, target DNA sequence as this code includes all the tested DNA sequences. |
733500118 | 73350-01-18 | WGS by NGS | Whole genome analysis by Next Generation Sequencing | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of the entire genome by NGS which include copy number variants (CNV) or single nucleotide polymorphisms (SNPs) analysis (evaluation of range of possible genetic disorders) | DNA sequences | null | Do not assign this code with the following codes (Genome Analysis by CMA; CNV; Genome Analysis by CMA; CNV&SNP). Do not assign this code to sequencing for chromosomal abnormalities. Do not report code for a specific, target DNA sequence as this code includes all the tested DNA sequences. |
733500119 | 73350-01-19 | Genome analysis tumor var | Genome analysis for tumor variants | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of blood or tumor tissue sample for tumor mutation detection by comparative genomic hybridization (CGH) | DNA sequences | null | Do not report code for a specific, target DNA sequence as this code includes all the tested DNA sequences. |
733500136 | 73350-01-36 | DMD gene; Dup/Del | Dystrophin or Duchenne/Becker muscular dystrophy (DMD) duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for analysis of repeated or deleted nucleotides | null | null | null |
733500137 | 73350-01-37 | DMPK gene; analysis (evaluation) | DM1 protein kinase (DMPK) expanded sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for abnormal expanded alleles (e.g. myotonic dystrophy type 1) | null | null | null |
733500138 | 73350-01-38 | DMPK gene; Characterization | DM1 protein kinase (DMPK) Characterization of expanded sequence abnormal alleles | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Follow up gene analysis to define nucleotide repeats or methylation status (e.g. myotonic dystrophy type 1) | null | null | null |
733500249 | 73350-02-49 | DPYD gene; variants | Dihydropyrimidine dehydrogenase (DPYD) gene variant analysis (e.g. *2A, *4, *5, *6) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. 5-fluorouracil/5-FU and capecitabine drug metabolism). | null | null | null |
733500121 | 73350-01-21 | EZH2 gene; Full Sequence | Enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. myelodysplastic syndrome, myeloproliferative neoplasms) | null | null | null |
733500122 | 73350-01-22 | EZH2 gene; variants | Enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) common gene variants analysis (e.g. codon 646) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. diffuse large B-cell lymphoma). | null | null | null |
733500141 | 73350-01-41 | F9 gene; Full Sequence | Coagulation factor IX (F9) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. hemophilia B) | null | null | null |
733500161 | 73350-01-61 | FLT3 gene; TKD | Fms-related tyrosine kinase 3 (FTL3) specific gene variant analysis of tyrosine kinase domain variants (TKD) (e.g. D835, I836) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. acute myeloid leukemia). | null | null | null |
733500162 | 73350-01-62 | FMR1 gene; evaluation | Fragile X mental retardation 1 (FMR1) expanded sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for abnormal expanded alleles (e.g. fragile X, mental retardation) | null | null | null |
733500163 | 73350-01-63 | FMR1 gene; characterization | Fragile X mental retardation 1 (FMR1) Characterization of expanded sequence abnormal alleles | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Follow up gene analysis to define nucleotide repeats or methylation status (e.g. fragile X, mental retardation) | null | null | null |
733500164 | 73350-01-64 | FXN gene; evaluation | Frataxin or Friedreich ataxia (FXN) expanded sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for abnormal expanded alleles (e.g. Friedreich ataxia) | null | null | null |
733500165 | 73350-01-65 | FXN gene; characterization | Frataxin or Friedreich ataxia (FXN) Characterization of expanded sequence abnormal alleles | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Follow up gene analysis to define nucleotide repeats or methylation status (e.g. Friedreich ataxia) | null | null | null |
733500166 | 73350-01-66 | FXN gene; Full Sequence | Frataxin or Friedreich ataxia (FXN) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. Friedreich ataxia) | null | null | null |
733500167 | 73350-01-67 | FXN gene; Familial variant | Frataxin or Friedreich ataxia (FXN) analysis of known familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) (e.g. Friedreich ataxia) | null | null | null |
733500201 | 73350-02-01 | GBA gene; variants | Glucosidase beta acid (GBA) gene variant analysis (e.g. 84GG, L444P, IVS2+1G>A) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. Gaucher disease) | null | null | null |
733500202 | 73350-02-02 | GJB2 gene; full sequence | Gap junction protein, beta 2, 26kDa, connexin 26 (GJB2) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. nonsyndromic hearing loss) | null | null | null |
733500203 | 73350-02-03 | GJB2 gene; Familial variant | Gap junction protein, beta 2, 26kDa, connexin 26 (GJB2) analysis of known familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) (e.g. nonsyndromic hearing loss) | null | null | null |
733500204 | 73350-02-04 | GJB6 gene; variants | Gap junction protein, beta 2, 26kDa, connexin 26 (GJB2) gene variant analysis (e.g. 309kb [del(GJB6-D13S1830)], 232kb [del(GJB6-D13S1854)]). | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. nonsyndromic hearing loss) | null | null | null |
733500205 | 73350-02-05 | HBA1/HBA2 gene; variants | Alpha globin 1 and alpha globin 2 (HBA1/HBA2) for hemoglobinopathies, gene variant common deletions analysis (e.g. Thai, Southeast Asian, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, Constant Spring). | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease) | ALPHA-THALASSEMIA GENE (ALPHA GLOBIN), DELETIon/MUTatIon PANEL | null | null |
733500206 | 73350-02-06 | HBA1/HBA2gene; Familial variant | Alpha globin 1 and alpha globin 2 (HBA1/HBA2) for hemoglobinopathies, analysis of common familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) (e.g. alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease) | null | null | null |
733500207 | 73350-02-07 | HBA1/HBA2gene; Full Sequence | Alpha globin 1 and alpha globin 2 (HBA1/HBA2) for hemoglobinopathies, full gene sequencing | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease) | null | null | null |
733500208 | 73350-02-08 | HBA1/HBA2gene; Dup/Del | Alpha globin 1 and alpha globin 2 (HBA1/HBA2) for hemoglobinopathies, duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for analysis of repeated or deleted nucleotides (e.g. alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease) | null | null | null |
733500209 | 73350-02-09 | HEXA gene; variants | Hexosaminidase A, alpha polypeptide (HEXA) common gene variants analysis (e.g. 1278insTATC, 1421+1G>C, G269S) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. Tay-Sachs disease) | null | null | null |
733500000 | 73350-00-00 | BCR/ABL1 Fusion genes; Major Breakpoint; Quant./Qual. | Quantitative/Qualitative major breakpoint sequence analysis of BCR/ABL1 (t(9;22)) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Major breakpoint which occur on chromosome 22 due to translocation, forming altered gene sequence (e.g. chronic myelogenous leukemia) | null | null | null |
733500010 | 73350-00-10 | BCR/ABL1 Fusion genes; Minor Breakpoint; Quant./Qual. | Quantitative/Qualitative minor breakpoint sequence analysis of BCR/ABL1 (t(9;22)) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Minor breakpoint which occur on chromosome 22 due to translocation forming altered gene sequence )) (e.g. chronic myelogenous leukemia) | null | null | null |
733500020 | 73350-00-20 | BCR/ABL1 Fusion genes; Other Breakpoint; Quant./Qual. | Quantitative/Qualitative other breakpoint sequence analysis of BCR/ABL1 (t(9;22)) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Other breakpoint which occur on chromosome 22 due to translocation, forming altered gene sequence (e.g. chronic myelogenous leukemia) | null | null | null |
733500030 | 73350-00-30 | BLM gene; variants | Bloom syndrome (BLM) common gene variants analysis (e.g. 2281del6ins7) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for BLM (RecQ helicase-like) gene mutations | null | null | null |
733500211 | 73350-02-11 | HTT gene; Evaluation | Huntingtin (HTT) for Huntington disease, expanded sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for abnormal expanded allels (e.g. Huntington disease) | null | null | Do not assign a separate charachterization code if its included in the analysis |
733500040 | 73350-00-40 | Acetaldehyde; Quant.; blood | Quantitative measurement of Acetaldehyde in blood | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Measurement of acetaldehyde levels | null | null | null |
733500050 | 73350-00-50 | BRCA1&2 genes; Full Seq/Dup/Del | Breast cancer gene 1&2 (BRCA1; BRCA2) full sequence with full duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for BRCA1&2 genes (e.g. hereditary breast, ovarian cancer); detection of large gene rearrangements | null | null | null |
733500060 | 73350-00-60 | BRCA1&2 genes; Full Sequence | Breast cancer gene 1&2 (BRCA1; BRCA2) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for BRCA1&2 genes (e.g. hereditary breast, ovarian cancer) | null | null | null |
733500070 | 73350-00-70 | BRCA1&2 genes; Dup/Del | Breast cancer gene 1&2 (BRCA1; BRCA2) full duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for BRCA1&2 genes (e.g. hereditary breast, ovarian cancer); detection of large gene rearrangements | null | null | null |
733500080 | 73350-00-80 | BRCA1&2 genes; variants | Breast cancer gene 1&2 (BRCA1; BRCA2) specific gene variants analysis (185delAG, 5385insC, 6174delT) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for BRCA1&2 gene mutations (e.g. hereditary breast, ovarian cancer); | null | null | null |
733500090 | 73350-00-90 | BRCA 1 gene; Full Sequence | Breast cancer gene 1 (BRCA1) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for BRCA1 gene (e.g. hereditary breast, ovarian cancer) | null | null | null |
733500212 | 73350-02-12 | HTT gene; Characterization | Huntingtin (HTT) for Huntington disease, characterization of expanded sequence abnormal alleles | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Follow up gene analysis to define nucleotide repeats or methylation status | null | null | null |
733500241 | 73350-02-41 | HPA–1 gene; variants | Human Platelet Antigen 1 (HPA-1); HPA–1a and HPA–1b; common gene variants analysis (e.g. L33P) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500100 | 73350-01-00 | BRCA 2 gene; Full Sequence | Breast cancer gene 2 (BRCA2) full sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for BRCA2 gene (e.g. hereditary breast, ovarian cancer) | null | null | Do not assign this code with (73350-00-50, 73350-01-10, 73350-00-70) |
733500242 | 73350-02-42 | HPA-2 gene; variants | Human Platelet Antigen 2 (HPA-2); HPA–2a and HPA–2b; common gene variants analysis (e.g. T145M) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500110 | 73350-01-10 | BRCA 2 gene; Familial variant | Breast cancer gene 2 (BRCA2) analysis of common familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific familial gene sequence alteration (variant/mutation) (e.g. performed for risk assessment of hereditary conditions) | null | null | Do not assign this code with (73350-00-50, 73350-01-10, BRCA 2 Gene; Dup/Del) |
733500243 | 73350-02-43 | HPA-3 gene; variants | Human Platelet Antigen 3 (HPA-3); HPA–3a and HPA–3b; common gene variants analysis (e.g. I843S) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500244 | 73350-02-44 | HPA-4 gene; variants | Human Platelet Antigen 4 (HPA-4); HPA–4a and HPA–4b; common gene variants analysis (e.g. R143Q) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500245 | 73350-02-45 | HPA-5 gene; variants | Human Platelet Antigen 5 (HPA-5); HPA–5a and HPA–5b; common gene variants analysis (e.g. K505E) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500246 | 73350-02-46 | HPA-6 gene; variants | Human Platelet Antigen 6 (HPA-6); HPA–6a and HPA–6b;common gene variants analysis (e.g. K505E) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500247 | 73350-02-47 | HPA-9 gene; variants | Human Platelet Antigen 9 (HPA-9); HPA–9a and HPA–9b;common gene variants analysis (e.g. V837M) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500248 | 73350-02-48 | HPA-15 gene; variants | Human Platelet Antigen 15 (HPA-15); HPA–15a and HPA–15b; common gene variants analysis (e.g. S682Y) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. neonatal alloimmune thrombocytopenia (NAIT). post–transfusion purpura (PTP)) (genotyping) | null | null | null |
733500213 | 73350-02-13 | IDH1 gene variants; Soluble | Soluble Isocitrate dehydrogenase 1 [NADP+] (IDHI) common gene variants analysis (e.g. R132H, R132C) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. glioma) | null | null | null |
733500214 | 73350-02-14 | IDH1 gene variants; Mitochondrial | Mitochondrial Isocitrate dehydrogenase 2 [NADP+] (IDHI) common gene variants analysis (e.g. R140W, R172M) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. glioma) | null | null | null |
733500215 | 73350-02-15 | IFNL3 gene; variants | Interferon lambda 3 (IFNL3) specific gene variant analysis (rs12979860) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. hepatitis C virus (HCV) genotype 1 for drug response test) | null | null | null |
733500216 | 73350-02-16 | IGH@ gene variants; PCR | Immunoglobulin heavy chain locus gene (IGH@) rearrangement analysis (abnormal clonal populations) by polymerase chain reaction (PCR) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. of lymphoid neoplasms) | null | null | null |
733500217 | 73350-02-17 | IGH@ gene variants; Southern Blot | Immunoglobulin heavy chain locus gene (IGH@) rearrangement analysis (abnormal clonal populations) by Southern blot | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. of lymphoid neoplasms) | null | null | null |
733500218 | 73350-02-18 | IGH@ gene variants; Somatic | Immunoglobulin heavy chain locus gene (IGH@) variant translocation analysis of immunoglobulin heavy chain variable region (VH) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. of lymphoid neoplasms) | null | null | null |
733500219 | 73350-02-19 | IGH@/BCL2 Fusion genes; Maj & Min Breakpoint; Quant/Qual | Quantitative/Qualitative translocation analysis (t(14;18)) of major breakpoint region (MBR) and minor cluster region (mcr) breakpoints on the Immunoglobulin heavy chain locus gene AND B-cell lymphoma 2 (IGH@/BCL2) fusion gene | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for major/minor breakpoints due to translocation, forming altered gene sequence (e.g. follicular lymphoma (FL)) Sample is usually taken from blood, formalin–fixed paraffin embedded tissue (FFPE), or bone marrow. | null | null | null |
733500168 | 73350-01-68 | IGK@ gene; variants | Immunoglobulin kappa light chain locus (IGK@) gene rearrangement analysis (abnormal clonal populations) by polymerase chain reaction (PCR) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. of lymphoid neoplasms) | null | null | null |
733500169 | 73350-01-69 | IKBKAP gene; variants | Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP) gene variant analysis (e.g. 2507+6T>C, R696P) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. of familial dysautonomia) | null | null | null |
733500221 | 73350-02-21 | JAK2 gene; Target Sequence | Janus Kinase 2 (JAK2) target sequence gene analysis (e.g. exons 12, 13) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection on specific site (e.g. myeloproliferative neoplasms (MPN) ) | null | null | null |
733500222 | 73350-02-22 | KIT gene; Target Sequence | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) target sequence gene analysis (e.g. exons 8, 11, 13, 17, 18) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection on specific site (e.g. gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma) | null | null | null |
733500223 | 73350-02-23 | KIT gene; variants | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) specific gene variant analysis (D816) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. mastocytosis) | null | null | null |
733500224 | 73350-02-24 | KRAS gene; Exon 2 variants | Kirsten rat sarcoma viral oncogene homolog (KRAS) gene variant analysis in exon 2 (e.g. codons 12, 13) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. carcinoma) | null | null | null |
733500225 | 73350-02-25 | KRAS gene; Other variants | Kirsten rat sarcoma viral oncogene homolog (KRAS) other gene variant analysis (e.g. codon 61, 146) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. carcinoma) | null | null | null |
733500226 | 73350-02-26 | MCOLN1 gene; variants | Mucolipin 1 (MCOLN1) gene variant analysis (e.g. IVS3-2A>G, del6.4kb) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. type IV mucolipidosis) | null | null | null |
733500227 | 73350-02-27 | MECP2 gene; Full Sequence | Methyl CpG binding protein 2 (MECP2) full gene sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. Rett syndrome) | null | null | null |
733500228 | 73350-02-28 | MECP2 gene; Familial variant | Methyl CpG binding protein 2 (MECP2) analysis of known familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) (e.g. Rett syndrome) | null | null | null |
733500229 | 73350-02-29 | MECP2 gene; Dup/Del | Methyl CpG binding protein 2 (MECP2) duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for analysis of repeated or deleted nucleotides (e.g. Rett syndrome) | null | null | null |
733500297 | 73350-02-97 | MGMT gene; Methylation | O–6–methylguanine–DNA methyltransferase (MGMT) promoter methylation analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Test to assess responsiveness to chemotherapy (e.g. glioblastoma) | null | null | null |
733500298 | 73350-02-98 | Microsatellite Instability test | Test for detection of tumor microsatellite instability | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Susceptibility test to detect DNA errors leading to cancer. | null | null | null |
733500800 | 73350-08-00 | MLH1 gene; Full Sequence | mutL homolog 1 (MLH1) or colon cancer/nonpolyposis type 2, full gene sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. Lynch syndrome) | null | null | null |
733500801 | 73350-08-01 | MLH1 gene; Methylation | mutL homolog 1 (MLH1) or colon cancer/nonpolyposis type 2, promoter methylation analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Test to assess genetic changes related to the disease (e.g. inheritance of the genetic mutation) | null | null | null |
733500802 | 73350-08-02 | MLH1 gene; Familial variant | mutL homolog 1 (MLH1) or colon cancer/nonpolyposis type 2, analysis of known familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) (e.g. Lynch syndrome) | null | null | null |
733500803 | 73350-08-03 | MLH1 gene; Dup/Del | mutL homolog 1 (MLH1) or colon cancer/nonpolyposis type 2, duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for analysis of repeated or deleted nucleotides (e.g. negative tested patients of suspected MLH1 mutations) | null | null | null |
733500804 | 73350-08-04 | MPL gene; variants | MPL proto–oncogene thrombopoietin receptor common gene variants analysis (e.g. W515A, W515K, W515L, W515R) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. myeloproliferative neoplasms (MPN)) | null | null | null |
733500805 | 73350-08-05 | MPL gene; Target sequence | MPL proto–oncogene thrombopoietin receptor, specific sequence analysis on exon 10 (e.g. codons W515, S505) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection on specific site (e.g. myeloproliferative neoplasms (MPN) ) | null | null | null |
733500806 | 73350-08-06 | MSH2 gene; Full sequence | MutS homolog 2 (MSH2) or colon cancer/nonpolyposis type 1, full gene sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. Lynch syndrome) | null | null | null |
733500120 | 73350-01-20 | EGFR gene; variants | Epidermal growth factor receptor (EGFR) gene variant analysis (e.g. exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. non-small cell lung cancer). | null | null | null |
733500807 | 73350-08-07 | MSH2 gene; Familial variant | MutS homolog 2 (MSH2) or colon cancer/nonpolyposis type 1, analysis of known familial variant | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Analysis of specific, familial, gene sequence alteration (variant/mutation) (e.g. Lynch syndrome) | null | null | null |
733500808 | 73350-08-08 | MSH2 gene; Dup/Del | MutS homolog 2 (MSH2) or colon cancer/nonpolyposis type 1, duplication and deletion analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for analysis of repeated or deleted nucleotides (e.g. negative tested patients of suspected MSH2 mutations) | null | null | null |
733500130 | 73350-01-30 | F2 gene; variants | Prothrombin, coagulation factor II (F2) common gene variants analysis (e.g. 20210G>A ) | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. hereditary hypercoagulability). | null | null | null |
733500140 | 73350-01-40 | F5 gene; Leiden variant | Coagulation factor V (F5) Leiden variant gene analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Testing for mutation detection (e.g. hereditary hypercoagulability). | null | null | null |
733500809 | 73350-08-09 | MSH6 gene; Full sequence | MutS homolog 6 [E. coli] (MSH6) full gene sequence analysis | 21 | Laboratory and Pathology | 3,350 | Molecular Pathology including Gene Sequencing | Full sequence of a gene (e.g. Lynch syndrome) | null | null | null |