SBS Code
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| SBS Code (Hyphenated)
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| Short Description
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| Long Description
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544
| Chapter
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⌀ | Chapter Name
stringclasses 25
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int64 1
4.02k
| Block Name
stringlengths 3
99
⌀ | Definition
stringlengths 11
1.18k
⌀ | Includes
stringlengths 4
1.31k
⌀ | Excludes
stringlengths 1
1.23k
⌀ | Guidelines
stringlengths 1
1.54k
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|
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 |
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