81105
|
HUMAN PLATELET ANTIGEN 1 GENOTYPING (HPA-1), ITGB3 (INTEGRIN, BETA 3 [PLATELET GLYCOPROTEIN IIIA], ANTIGEN CD61 [GPIIIA]) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT, HPA-1A/B (L33P)
|
81106
|
HUMAN PLATELET ANTIGEN 2 GENOTYPING (HPA-2), GP1BA (GLYCOPROTEIN IB [PLATELET], ALPHA POLYPEPTIDE [GPIBA]) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT, HPA-2A/B (T145M)
|
81107
|
HUMAN PLATELET ANTIGEN 3 GENOTYPING (HPA-3), ITGA2B (INTEGRIN, ALPHA 2B [PLATELET GLYCOPROTEIN IIB OF IIB/IIIA COMPLEX], ANTIGEN CD41 [GPIIB]) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT, HPA-3A/B (I843S)
|
81108
|
HUMAN PLATELET ANTIGEN 4 GENOTYPING (HPA-4), ITGB3 (INTEGRIN, BETA 3 [PLATELET GLYCOPROTEIN IIIA], ANTIGEN CD61 [GPIIIA]) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT, HPA-4A/B (R143Q)
|
81109
|
HUMAN PLATELET ANTIGEN 5 GENOTYPING (HPA-5), ITGA2 (INTEGRIN, ALPHA 2 [CD49B, ALPHA 2 SUBUNIT OF VLA-2 RECEPTOR] [GPIA]) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT (EG, HPA-5A/B [K505E])
|
81110
|
HUMAN PLATELET ANTIGEN 6 GENOTYPING (HPA-6W), ITGB3 (INTEGRIN, BETA 3 [PLATELET GLYCOPROTEIN IIIA, ANTIGEN CD61] [GPIIIA]) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT, HPA-6A/B (R489Q)
|
81111
|
HUMAN PLATELET ANTIGEN 9 GENOTYPING (HPA-9W), ITGA2B (INTEGRIN, ALPHA 2B [PLATELET GLYCOPROTEIN IIB OF IIB/IIIA COMPLEX, ANTIGEN CD41] [GPIIB]) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT, HPA-9A/B (V837M)
|
81112
|
HUMAN PLATELET ANTIGEN 15 GENOTYPING (HPA-15), CD109 (CD109 MOLECULE) (EG, NEONATAL ALLOIMMUNE THROMBOCYTOPENIA [NAIT], POST-TRANSFUSION PURPURA), GENE ANALYSIS, COMMON VARIANT, HPA-15A/B (S682Y)
|
81161
|
DMD (DYSTROPHIN) (EG, DUCHENNE/BECKER MUSCULAR DYSTROPHY) DELETION ANALYSIS, AND DUPLICATION ANALYSIS, IF PERFORMED
|
81162
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED), BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; FULL SEQUENCE ANALYSIS AND FULL DUPLICATION/DELETION ANALYSIS (IE, DETECTION OF LARGE GENE REARRANGEMENTS)
|
81163
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED), BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81164
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED), BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; FULL DUPLICATION/DELETION ANALYSIS (IE, DETECTION OF LARGE GENE REARRANGEMENTS)
|
81165
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81166
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; FULL DUPLICATION/DELETION ANALYSIS (IE, DETECTION OF LARGE GENE REARRANGEMENTS)
|
81167
|
BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; FULL DUPLICATION/DELETION ANALYSIS (IE, DETECTION OF LARGE GENE REARRANGEMENTS)
|
81171
|
AFF2 (AF4/FMR2 FAMILY, MEMBER 2 [FMR2]) (EG, FRAGILE X MENTAL RETARDATION 2 [FRAXE]) GENE ANALYSIS; EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81172
|
AFF2 (AF4/FMR2 FAMILY, MEMBER 2 [FMR2]) (EG, FRAGILE X MENTAL RETARDATION 2 [FRAXE]) GENE ANALYSIS; CHARACTERIZATION OF ALLELES (EG, EXPANDED SIZE AND METHYLATION STATUS)
|
81173
|
AR (ANDROGEN RECEPTOR) (EG, SPINAL AND BULBAR MUSCULAR ATROPHY, KENNEDY DISEASE, X CHROMOSOME INACTIVATION) GENE ANALYSIS; FULL GENE SEQUENCE
|
81174
|
AR (ANDROGEN RECEPTOR) (EG, SPINAL AND BULBAR MUSCULAR ATROPHY, KENNEDY DISEASE, X CHROMOSOME INACTIVATION) GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81177
|
ATN1 (ATROPHIN 1) (EG, DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81178
|
ATXN1 (ATAXIN 1) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81179
|
ATXN2 (ATAXIN 2) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81180
|
ATXN3 (ATAXIN 3) (EG, SPINOCEREBELLAR ATAXIA, MACHADO-JOSEPH DISEASE) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81181
|
ATXN7 (ATAXIN 7) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81182
|
ATXN8OS (ATXN8 OPPOSITE STRAND [NON-PROTEIN CODING]) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81183
|
ATXN10 (ATAXIN 10) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81184
|
CACNA1A (CALCIUM VOLTAGE-GATED CHANNEL SUBUNIT ALPHA1 A) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS; EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81185
|
CACNA1A (CALCIUM VOLTAGE-GATED CHANNEL SUBUNIT ALPHA1 A) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS; FULL GENE SEQUENCE
|
81186
|
CACNA1A (CALCIUM VOLTAGE-GATED CHANNEL SUBUNIT ALPHA1 A) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81187
|
CNBP (CCHC-TYPE ZINC FINGER NUCLEIC ACID BINDING PROTEIN) (EG, MYOTONIC DYSTROPHY TYPE 2) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81188
|
CSTB (CYSTATIN B) (EG, UNVERRICHT-LUNDBORG DISEASE) GENE ANALYSIS; EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81189
|
CSTB (CYSTATIN B) (EG, UNVERRICHT-LUNDBORG DISEASE) GENE ANALYSIS; FULL GENE SEQUENCE
|
81190
|
CSTB (CYSTATIN B) (EG, UNVERRICHT-LUNDBORG DISEASE) GENE ANALYSIS; KNOWN FAMILIAL VARIANT(S)
|
81200
|
ASPA (ASPARTOACYLASE) (EG, CANAVAN DISEASE) GENE ANALYSIS, COMMON VARIANTS (EG, E285A, Y231X)
|
81201
|
APC (ADENOMATOUS POLYPOSIS COLI) (EG, FAMILIAL ADENOMATOSIS POLYPOSIS [FAP], ATTENUATED FAP) GENE ANALYSIS; FULL GENE SEQUENCE
|
81202
|
APC (ADENOMATOUS POLYPOSIS COLI) (EG, FAMILIAL ADENOMATOSIS POLYPOSIS [FAP], ATTENUATED FAP) GENE ANALYSIS; KNOWN FAMILIAL VARIANTS
|
81203
|
APC (ADENOMATOUS POLYPOSIS COLI) (EG, FAMILIAL ADENOMATOSIS POLYPOSIS [FAP], ATTENUATED FAP) GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81204
|
AR (ANDROGEN RECEPTOR) (EG, SPINAL AND BULBAR MUSCULAR ATROPHY, KENNEDY DISEASE, X CHROMOSOME INACTIVATION) GENE ANALYSIS; CHARACTERIZATION OF ALLELES (EG, EXPANDED SIZE OR METHYLATION STATUS)
|
81205
|
BCKDHB (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE) (EG, MAPLE SYRUP URINE DISEASE) GENE ANALYSIS, COMMON VARIANTS (EG, R183P, G278S, E422X)
|
81209
|
BLM (BLOOM SYNDROME, RECQ HELICASE-LIKE) (EG, BLOOM SYNDROME) GENE ANALYSIS, 2281DEL6INS7 VARIANT
|
81212
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED), BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; 185DELAG, 5385INSC, 6174DELT VARIANTS
|
81215
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81216
|
BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81217
|
BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81220
|
CFTR (CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR) (EG, CYSTIC FIBROSIS) GENE ANALYSIS; COMMON VARIANTS (EG, ACMG/ACOG GUIDELINES)
|
81221
|
CFTR (CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR) (EG, CYSTIC FIBROSIS) GENE ANALYSIS; KNOWN FAMILIAL VARIANTS
|
81222
|
CFTR (CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR) (EG, CYSTIC FIBROSIS) GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81223
|
CFTR (CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR) (EG, CYSTIC FIBROSIS) GENE ANALYSIS; FULL GENE SEQUENCE
|
81224
|
CFTR (CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR) (EG, CYSTIC FIBROSIS) GENE ANALYSIS; INTRON 8 POLY-T ANALYSIS (EG, MALE INFERTILITY)
|
81225
|
CYP2C19 (CYTOCHROME P450, FAMILY 2, SUBFAMILY C, POLYPEPTIDE 19) (EG, DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANTS (EG, *2, *3, *4, *8, *17)
|
81226
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANTS (EG, *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN)
|
81227
|
CYP2C9 (CYTOCHROME P450, FAMILY 2, SUBFAMILY C, POLYPEPTIDE 9) (EG, DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANTS (EG, *2, *3, *5, *6)
|
81228
|
CYTOGENOMIC (GENOME-WIDE) ANALYSIS FOR CONSTITUTIONAL CHROMOSOMAL ABNORMALITIES; INTERROGATION OF GENOMIC REGIONS FOR COPY NUMBER VARIANTS, COMPARATIVE GENOMIC HYBRIDIZATION [CGH] MICROARRAY ANALYSIS
|
81229
|
CYTOGENOMIC (GENOME-WIDE) ANALYSIS FOR CONSTITUTIONAL CHROMOSOMAL ABNORMALITIES; INTERROGATION OF GENOMIC REGIONS FOR COPY NUMBER AND SINGLE NUCLEOTIDE POLYMORPHISM (SNP) VARIANTS, COMPARATIVE GENOMIC HYBRIDIZATION (CGH) MICROARRAY ANALYSIS
|
81230
|
CYP3A4 (CYTOCHROME P450 FAMILY 3 SUBFAMILY A MEMBER 4) (EG, DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANT(S) (EG, *2, *22)
|
81231
|
CYP3A5 (CYTOCHROME P450 FAMILY 3 SUBFAMILY A MEMBER 5) (EG, DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANTS (EG, *2, *3, *4, *5, *6, *7)
|
81232
|
DPYD (DIHYDROPYRIMIDINE DEHYDROGENASE) (EG, 5-FLUOROURACIL/5-FU AND CAPECITABINE DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANT(S) (EG, *2A, *4, *5, *6)
|
81233
|
BTK (BRUTON'S TYROSINE KINASE) (EG, CHRONIC LYMPHOCYTIC LEUKEMIA) GENE ANALYSIS, COMMON VARIANTS (EG, C481S, C481R, C481F)
|
81234
|
DMPK (DM1 PROTEIN KINASE) (EG, MYOTONIC DYSTROPHY TYPE 1) GENE ANALYSIS; EVALUATION TO DETECT ABNORMAL (EXPANDED) ALLELES
|
81238
|
F9 (COAGULATION FACTOR IX) (EG, HEMOPHILIA B), FULL GENE SEQUENCE
|
81239
|
DMPK (DM1 PROTEIN KINASE) (EG, MYOTONIC DYSTROPHY TYPE 1) GENE ANALYSIS; CHARACTERIZATION OF ALLELES (EG, EXPANDED SIZE)
|
81240
|
F2 (PROTHROMBIN, COAGULATION FACTOR II) (EG, HEREDITARY HYPERCOAGULABILITY) GENE ANALYSIS, 20210G>A VARIANT
|
81241
|
F5 (COAGULATION FACTOR V) (EG, HEREDITARY HYPERCOAGULABILITY) GENE ANALYSIS, LEIDEN VARIANT
|
81242
|
FANCC (FANCONI ANEMIA, COMPLEMENTATION GROUP C) (EG, FANCONI ANEMIA, TYPE C) GENE ANALYSIS, COMMON VARIANT (EG, IVS4+4A>T)
|
81243
|
FMR1 (FRAGILE X MENTAL RETARDATION 1) (EG, FRAGILE X MENTAL RETARDATION) GENE ANALYSIS; EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81244
|
FMR1 (FRAGILE X MENTAL RETARDATION 1) (EG, FRAGILE X MENTAL RETARDATION) GENE ANALYSIS; CHARACTERIZATION OF ALLELES (EG, EXPANDED SIZE AND PROMOTER METHYLATION STATUS)
|
81247
|
G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE) (EG, HEMOLYTIC ANEMIA, JAUNDICE), GENE ANALYSIS; COMMON VARIANT(S) (EG, A, A-)
|
81248
|
G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE) (EG, HEMOLYTIC ANEMIA, JAUNDICE), GENE ANALYSIS; KNOWN FAMILIAL VARIANT(S)
|
81249
|
G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE) (EG, HEMOLYTIC ANEMIA, JAUNDICE), GENE ANALYSIS; FULL GENE SEQUENCE
|
81250
|
G6PC (GLUCOSE-6-PHOSPHATASE, CATALYTIC SUBUNIT) (EG, GLYCOGEN STORAGE DISEASE, TYPE 1A, VON GIERKE DISEASE) GENE ANALYSIS, COMMON VARIANTS (EG, R83C, Q347X)
|
81251
|
GBA (GLUCOSIDASE, BETA, ACID) (EG, GAUCHER DISEASE) GENE ANALYSIS, COMMON VARIANTS (EG, N370S, 84GG, L444P, IVS2+1G>A)
|
81252
|
GJB2 (GAP JUNCTION PROTEIN, BETA 2, 26KDA, CONNEXIN 26) (EG, NONSYNDROMIC HEARING LOSS) GENE ANALYSIS; FULL GENE SEQUENCE
|
81253
|
GJB2 (GAP JUNCTION PROTEIN, BETA 2, 26KDA, CONNEXIN 26) (EG, NONSYNDROMIC HEARING LOSS) GENE ANALYSIS; KNOWN FAMILIAL VARIANTS
|
81254
|
GJB6 (GAP JUNCTION PROTEIN, BETA 6, 30KDA, CONNEXIN 30) (EG, NONSYNDROMIC HEARING LOSS) GENE ANALYSIS, COMMON VARIANTS (EG, 309KB [DEL(GJB6-D13S1830)] AND 232KB [DEL(GJB6-D13S1854)])
|
81255
|
HEXA (HEXOSAMINIDASE A [ALPHA POLYPEPTIDE]) (EG, TAY-SACHS DISEASE) GENE ANALYSIS, COMMON VARIANTS (EG, 1278INSTATC, 1421+1G>C, G269S)
|
81256
|
HFE (HEMOCHROMATOSIS) (EG, HEREDITARY HEMOCHROMATOSIS) GENE ANALYSIS, COMMON VARIANTS (EG, C282Y, H63D)
|
81257
|
HBA1/HBA2 (ALPHA GLOBIN 1 AND ALPHA GLOBIN 2) (EG, ALPHA THALASSEMIA, HB BART HYDROPS FETALIS SYNDROME, HBH DISEASE), GENE ANALYSIS; COMMON DELETIONS OR VARIANT (EG, SOUTHEAST ASIAN, THAI, FILIPINO, MEDITERRANEAN, ALPHA3.7, ALPHA4.2, ALPHA20.5, CONSTANT SPRING)
|
81258
|
HBA1/HBA2 (ALPHA GLOBIN 1 AND ALPHA GLOBIN 2) (EG, ALPHA THALASSEMIA, HB BART HYDROPS FETALIS SYNDROME, HBH DISEASE), GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81259
|
HBA1/HBA2 (ALPHA GLOBIN 1 AND ALPHA GLOBIN 2) (EG, ALPHA THALASSEMIA, HB BART HYDROPS FETALIS SYNDROME, HBH DISEASE), GENE ANALYSIS; FULL GENE SEQUENCE
|
81260
|
IKBKAP (INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B-CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN) (EG, FAMILIAL DYSAUTONOMIA) GENE ANALYSIS, COMMON VARIANTS (EG, 2507+6T>C, R696P)
|
81269
|
HBA1/HBA2 (ALPHA GLOBIN 1 AND ALPHA GLOBIN 2) (EG, ALPHA THALASSEMIA, HB BART HYDROPS FETALIS SYNDROME, HBH DISEASE), GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81271
|
HTT (HUNTINGTIN) (EG, HUNTINGTON DISEASE) GENE ANALYSIS; EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81274
|
HTT (HUNTINGTIN) (EG, HUNTINGTON DISEASE) GENE ANALYSIS; CHARACTERIZATION OF ALLELES (EG, EXPANDED SIZE)
|
81283
|
IFNL3 (INTERFERON, LAMBDA 3) (EG, DRUG RESPONSE), GENE ANALYSIS, RS12979860 VARIANT
|
81284
|
FXN (FRATAXIN) (EG, FRIEDREICH ATAXIA) GENE ANALYSIS; EVALUATION TO DETECT ABNORMAL (EXPANDED) ALLELES
|
81285
|
FXN (FRATAXIN) (EG, FRIEDREICH ATAXIA) GENE ANALYSIS; CHARACTERIZATION OF ALLELES (EG, EXPANDED SIZE)
|
81286
|
FXN (FRATAXIN) (EG, FRIEDREICH ATAXIA) GENE ANALYSIS; FULL GENE SEQUENCE
|
81288
|
MLH1 (MUTL HOMOLOG 1, COLON CANCER, NONPOLYPOSIS TYPE 2) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; PROMOTER METHYLATION ANALYSIS
|
81289
|
FXN (FRATAXIN) (EG, FRIEDREICH ATAXIA) GENE ANALYSIS; KNOWN FAMILIAL VARIANT(S)
|
81290
|
MCOLN1 (MUCOLIPIN 1) (EG, MUCOLIPIDOSIS, TYPE IV) GENE ANALYSIS, COMMON VARIANTS (EG, IVS3-2A>G, DEL6.4KB)
|
81291
|
MTHFR (5,10-METHYLENETETRAHYDROFOLATE REDUCTASE) (EG, HEREDITARY HYPERCOAGULABILITY) GENE ANALYSIS, COMMON VARIANTS (EG, 677T, 1298C)
|
81292
|
MLH1 (MUTL HOMOLOG 1, COLON CANCER, NONPOLYPOSIS TYPE 2) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81293
|
MLH1 (MUTL HOMOLOG 1, COLON CANCER, NONPOLYPOSIS TYPE 2) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; KNOWN FAMILIAL VARIANTS
|
81294
|
MLH1 (MUTL HOMOLOG 1, COLON CANCER, NONPOLYPOSIS TYPE 2) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81295
|
MSH2 (MUTS HOMOLOG 2, COLON CANCER, NONPOLYPOSIS TYPE 1) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81296
|
MSH2 (MUTS HOMOLOG 2, COLON CANCER, NONPOLYPOSIS TYPE 1) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; KNOWN FAMILIAL VARIANTS
|
81297
|
MSH2 (MUTS HOMOLOG 2, COLON CANCER, NONPOLYPOSIS TYPE 1) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81298
|
MSH6 (MUTS HOMOLOG 6 [E. COLI]) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81299
|
MSH6 (MUTS HOMOLOG 6 [E. COLI]) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; KNOWN FAMILIAL VARIANTS
|
81300
|
MSH6 (MUTS HOMOLOG 6 [E. COLI]) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81302
|
MECP2 (METHYL CPG BINDING PROTEIN 2) (EG, RETT SYNDROME) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81303
|
MECP2 (METHYL CPG BINDING PROTEIN 2) (EG, RETT SYNDROME) GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81304
|
MECP2 (METHYL CPG BINDING PROTEIN 2) (EG, RETT SYNDROME) GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81306
|
NUDT15 (NUDIX HYDROLASE 15) (EG, DRUG METABOLISM) GENE ANALYSIS, COMMON VARIANT(S) (EG, *2, *3, *4, *5, *6)
|
81307
|
PALB2 (PARTNER AND LOCALIZER OF BRCA2) (EG, BREAST AND PANCREATIC CANCER) GENE ANALYSIS; FULL GENE SEQUENCE
|
81309
|
PIK3CA (PHOSPHATIDYLINOSITOL-4, 5-BIPHOSPHATE 3-KINASE, CATALYTIC SUBUNIT ALPHA) (EG, COLORECTAL AND BREAST CANCER) GENE ANALYSIS, TARGETED SEQUENCE ANALYSIS (EG, EXONS 7, 9, 20)
|
81312
|
PABPN1 (POLY[A] BINDING PROTEIN NUCLEAR 1) (EG, OCULOPHARYNGEAL MUSCULAR DYSTROPHY) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81317
|
PMS2 (POSTMEIOTIC SEGREGATION INCREASED 2 [S. CEREVISIAE]) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81318
|
PMS2 (POSTMEIOTIC SEGREGATION INCREASED 2 [S. CEREVISIAE]) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; KNOWN FAMILIAL VARIANTS
|
81319
|
PMS2 (POSTMEIOTIC SEGREGATION INCREASED 2 [S. CEREVISIAE]) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) GENE ANALYSIS; DUPLICATION/DELETION VARIANTS
|
81321
|
PTEN (PHOSPHATASE AND TENSIN HOMOLOG) (EG, COWDEN SYNDROME, PTEN HAMARTOMA TUMOR SYNDROME) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81322
|
PTEN (PHOSPHATASE AND TENSIN HOMOLOG) (EG, COWDEN SYNDROME, PTEN HAMARTOMA TUMOR SYNDROME) GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81323
|
PTEN (PHOSPHATASE AND TENSIN HOMOLOG) (EG, COWDEN SYNDROME, PTEN HAMARTOMA TUMOR SYNDROME) GENE ANALYSIS; DUPLICATION/DELETION VARIANT
|
81324
|
PMP22 (PERIPHERAL MYELIN PROTEIN 22) (EG, CHARCOT-MARIE-TOOTH, HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES) GENE ANALYSIS; DUPLICATION/DELETION ANALYSIS
|
81325
|
PMP22 (PERIPHERAL MYELIN PROTEIN 22) (EG, CHARCOT-MARIE-TOOTH, HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES) GENE ANALYSIS; FULL SEQUENCE ANALYSIS
|
81326
|
PMP22 (PERIPHERAL MYELIN PROTEIN 22) (EG, CHARCOT-MARIE-TOOTH, HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES) GENE ANALYSIS; KNOWN FAMILIAL VARIANT
|
81328
|
SLCO1B1 (SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1) (EG, ADVERSE DRUG REACTION), GENE ANALYSIS, COMMON VARIANT(S) (EG, *5)
|
81329
|
SMN1 (SURVIVAL OF MOTOR NEURON 1, TELOMERIC) (EG, SPINAL MUSCULAR ATROPHY) GENE ANALYSIS; DOSAGE/DELETION ANALYSIS (EG, CARRIER TESTING), INCLUDES SMN2 (SURVIVAL OF MOTOR NEURON 2, CENTROMERIC) ANALYSIS, IF PERFORMED
|
81330
|
SMPD1 (SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL) (EG, NIEMANN-PICK DISEASE, TYPE A) GENE ANALYSIS, COMMON VARIANTS (EG, R496L, L302P, FSP330)
|
81331
|
SNRPN/UBE3A (SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N AND UBIQUITIN PROTEIN LIGASE E3A) (EG, PRADER-WILLI SYNDROME AND/OR ANGELMAN SYNDROME), METHYLATION ANALYSIS
|
81332
|
SERPINA1 (SERPIN PEPTIDASE INHIBITOR, CLADE A, ALPHA-1 ANTIPROTEINASE, ANTITRYPSIN, MEMBER 1) (EG, ALPHA-1-ANTITRYPSIN DEFICIENCY), GENE ANALYSIS, COMMON VARIANTS (EG, *S AND *Z)
|
81333
|
TGFBI (TRANSFORMING GROWTH FACTOR BETA-INDUCED) (EG, CORNEAL DYSTROPHY) GENE ANALYSIS, COMMON VARIANTS (EG, R124H, R124C, R124L, R555W, R555Q)
|
81335
|
TPMT (THIOPURINE S-METHYLTRANSFERASE) (EG, DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANTS (EG, *2, *3)
|
81336
|
SMN1 (SURVIVAL OF MOTOR NEURON 1, TELOMERIC) (EG, SPINAL MUSCULAR ATROPHY) GENE ANALYSIS; FULL GENE SEQUENCE
|
81337
|
SMN1 (SURVIVAL OF MOTOR NEURON 1, TELOMERIC) (EG, SPINAL MUSCULAR ATROPHY) GENE ANALYSIS; KNOWN FAMILIAL SEQUENCE VARIANT(S)
|
81343
|
PPP2R2B (PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT BBETA) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81344
|
TBP (TATA BOX BINDING PROTEIN) (EG, SPINOCEREBELLAR ATAXIA) GENE ANALYSIS, EVALUATION TO DETECT ABNORMAL (EG, EXPANDED) ALLELES
|
81345
|
TERT (TELOMERASE REVERSE TRANSCRIPTASE) (EG, THYROID CARCINOMA, GLIOBLASTOMA MULTIFORME) GENE ANALYSIS, TARGETED SEQUENCE ANALYSIS (EG, PROMOTER REGION)
|
81346
|
TYMS (THYMIDYLATE SYNTHETASE) (EG, 5-FLUOROURACIL/5-FU DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANT(S) (EG, TANDEM REPEAT VARIANT)
|
81350
|
UGT1A1 (UDP GLUCURONOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1) (EG, DRUG METABOLISM, HEREDITARY UNCONJUGATED HYPERBILIRUBINEMIA [GILBERT SYNDROME]) GENE ANALYSIS, COMMON VARIANTS (EG, *28, *36, *37)
|
81355
|
VKORC1 (VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1) (EG, WARFARIN METABOLISM), GENE ANALYSIS, COMMON VARIANT(S) (EG, -1639G>A, C.173+1000C>T)
|
81361
|
HBB (HEMOGLOBIN, SUBUNIT BETA) (EG, SICKLE CELL ANEMIA, BETA THALASSEMIA, HEMOGLOBINOPATHY); COMMON VARIANT(S) (EG, HBS, HBC, HBE)
|
81362
|
HBB (HEMOGLOBIN, SUBUNIT BETA) (EG, SICKLE CELL ANEMIA, BETA THALASSEMIA, HEMOGLOBINOPATHY); KNOWN FAMILIAL VARIANT(S)
|
81363
|
HBB (HEMOGLOBIN, SUBUNIT BETA) (EG, SICKLE CELL ANEMIA, BETA THALASSEMIA, HEMOGLOBINOPATHY); DUPLICATION/DELETION VARIANT(S)
|
81364
|
HBB (HEMOGLOBIN, SUBUNIT BETA) (EG, SICKLE CELL ANEMIA, BETA THALASSEMIA, HEMOGLOBINOPATHY); FULL GENE SEQUENCE
|
81401
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 2 (EG, 2-10 SNPS, 1 METHYLATED VARIANT, OR 1 SOMATIC VARIANT [TYPICALLY USING NONSEQUENCING TARGET VARIANT ANALYSIS], OR DETECTION OF A DYNAMIC MUTATION DISORDER/TRIPLET REPEAT)
|
81402
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 3 (EG, >10 SNPS, 2-10 METHYLATED VARIANTS, OR 2-10 SOMATIC VARIANTS [TYPICALLY USING NON-SEQUENCING TARGET VARIANT ANALYSIS], IMMUNOGLOBULIN AND T-CELL RECEPTOR GENE REARRANGEMENTS, DUPLICATION/DELETION VARIANTS OF 1 EXON, LOSS OF HETEROZYGOSITY [LOH], UNIPARENTAL DISOMY [UPD])
|
81403
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 4 (EG, ANALYSIS OF SINGLE EXON BY DNA SEQUENCE ANALYSIS, ANALYSIS OF >10 AMPLICONS USING MULTIPLEX PCR IN 2 OR MORE INDEPENDENT REACTIONS, MUTATION SCANNING OR DUPLICATION/DELETION VARIANTS OF 2-5 EXONS)
|
81404
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 5 (EG, ANALYSIS OF 2-5 EXONS BY DNA SEQUENCE ANALYSIS, MUTATION SCANNING OR DUPLICATION/DELETION VARIANTS OF 6-10 EXONS, OR CHARACTERIZATION OF A DYNAMIC MUTATION DISORDER/TRIPLET REPEAT BY SOUTHERN BLOT ANALYSIS) UGT1A1 (UDP GLUCURONOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1) (EG, HEREDITARY UNCONJUGATED HYPERBILIRUBINEMIA [CRIGLER-NAJJAR SYNDROME]) FULL GENE SEQUENCE
|
81405
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 6 (EG, ANALYSIS OF 6-10 EXONS BY DNA SEQUENCE ANALYSIS, MUTATION SCANNING OR DUPLICATION/DELETION VARIANTS OF 11-25 EXONS, REGIONALLY TARGETED CYTOGENOMIC ARRAY ANALYSIS)
|
81406
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 7 (EG, ANALYSIS OF 11-25 EXONS BY DNA SEQUENCE ANALYSIS, MUTATION SCANNING OR DUPLICATION/DELETION VARIANTS OF 26-50 EXONS, CYTOGENOMIC ARRAY ANALYSIS FOR NEOPLASIA)
|
81407
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 8 (EG, ANALYSIS OF 26-50 EXONS BY DNA SEQUENCE ANALYSIS, MUTATION SCANNING OR DUPLICATION/DELETION VARIANTS OF >50 EXONS, SEQUENCE ANALYSIS OF MULTIPLE GENES ON ONE PLATFORM) APOB (APOLIPOPROTEIN B) (EG, FAMILIAL HYPERCHOLESTEROLEMIA TYPE B) FULL GENE SEQUENCE
|
81408
|
MOLECULAR PATHOLOGY PROCEDURE, LEVEL 9 (EG, ANALYSIS OF >50 EXONS IN A SINGLE GENE BY DNA SEQUENCE ANALYSIS)
|
81410
|
AORTIC DYSFUNCTION OR DILATION (EG, MARFAN SYNDROME, LOEYS DIETZ SYNDROME, EHLER DANLOS SYNDROME TYPE IV, ARTERIAL TORTUOSITY SYNDROME); GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 9 GENES, INCLUDING FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, AND MYLK
|
81411
|
AORTIC DYSFUNCTION OR DILATION (EG, MARFAN SYNDROME, LOEYS DIETZ SYNDROME, EHLER DANLOS SYNDROME TYPE IV, ARTERIAL TORTUOSITY SYNDROME); DUPLICATION/DELETION ANALYSIS PANEL, MUST INCLUDE ANALYSES FOR TGFBR1, TGFBR2, MYH11, AND COL3A1
|
81412
|
ASHKENAZI JEWISH ASSOCIATED DISORDERS (EG, BLOOM SYNDROME, CANAVAN DISEASE, CYSTIC FIBROSIS, FAMILIAL DYSAUTONOMIA, FANCONI ANEMIA GROUP C, GAUCHER DISEASE, TAY-SACHS DISEASE), GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 9 GENES, INCLUDING ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, AND SMPD1
|
81413
|
CARDIAC ION CHANNELOPATHIES (EG, BRUGADA SYNDROME, LONG QT SYNDROME, SHORT QT SYNDROME, CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA); GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 10 GENES, INCLUDING ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, AND SCN5A
|
81414
|
CARDIAC ION CHANNELOPATHIES (EG, BRUGADA SYNDROME, LONG QT SYNDROME, SHORT QT SYNDROME, CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA); DUPLICATION/DELETION GENE ANALYSIS PANEL, MUST INCLUDE ANALYSIS OF AT LEAST 2 GENES, INCLUDING KCNH2 AND KCNQ1
|
81415
|
EXOME (EG, UNEXPLAINED CONSTITUTIONAL OR HERITABLE DISORDER OR SYNDROME); SEQUENCE ANALYSIS
|
81416
|
EXOME (EG, UNEXPLAINED CONSTITUTIONAL OR HERITABLE DISORDER OR SYNDROME); SEQUENCE ANALYSIS, EACH COMPARATOR EXOME (EG, PARENTS, SIBLINGS) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
81417
|
EXOME (EG, UNEXPLAINED CONSTITUTIONAL OR HERITABLE DISORDER OR SYNDROME); RE-EVALUATION OF PREVIOUSLY OBTAINED EXOME SEQUENCE (EG, UPDATED KNOWLEDGE OR UNRELATED CONDITION/SYNDROME)
|
81418
|
DRUG METABOLISM (EG, PHARMACOGENOMICS) GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE TESTING OF AT LEAST 6 GENES, INCLUDING CYP2C19, CYP2D6, AND CYP2D6 DUPLICATION/DELETION ANALYSIS
|
81419
|
EPILEPSY GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE ANALYSES FOR ALDH7A1, CACNA1A, CDKL5, CHD2, GABRG2, GRIN2A, KCNQ2, MECP2, PCDH19, POLG, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, STXBP1, SYNGAP1, TCF4, TPP1, TSC1, TSC2, AND ZEB2
|
81420
|
FETAL CHROMOSOMAL ANEUPLOIDY (EG, TRISOMY 21, MONOSOMY X) GENOMIC SEQUENCE ANALYSIS PANEL, CIRCULATING CELL-FREE FETAL DNA IN MATERNAL BLOOD, MUST INCLUDE ANALYSIS OF CHROMOSOMES 13, 18, AND 21
|
81422
|
FETAL CHROMOSOMAL MICRODELETION(S) GENOMIC SEQUENCE ANALYSIS (EG, DIGEORGE SYNDROME, CRI-DU-CHAT SYNDROME), CIRCULATING CELL-FREE FETAL DNA IN MATERNAL BLOOD
|
81425
|
GENOME (EG, UNEXPLAINED CONSTITUTIONAL OR HERITABLE DISORDER OR SYNDROME); SEQUENCE ANALYSIS
|
81426
|
GENOME (EG, UNEXPLAINED CONSTITUTIONAL OR HERITABLE DISORDER OR SYNDROME); SEQUENCE ANALYSIS, EACH COMPARATOR GENOME (EG, PARENTS, SIBLINGS) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
81427
|
GENOME (EG, UNEXPLAINED CONSTITUTIONAL OR HERITABLE DISORDER OR SYNDROME); RE-EVALUATION OF PREVIOUSLY OBTAINED GENOME SEQUENCE (EG, UPDATED KNOWLEDGE OR UNRELATED CONDITION/SYNDROME)
|
81430
|
HEARING LOSS (EG, NONSYNDROMIC HEARING LOSS, USHER SYNDROME, PENDRED SYNDROME); GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 60 GENES, INCLUDING CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, AND WFS1
|
81431
|
HEARING LOSS (EG, NONSYNDROMIC HEARING LOSS, USHER SYNDROME, PENDRED SYNDROME); DUPLICATION/DELETION ANALYSIS PANEL, MUST INCLUDE COPY NUMBER ANALYSES FOR STRC AND DFNB1 DELETIONS IN GJB2 AND GJB6 GENES
|
81432
|
HEREDITARY BREAST CANCER-RELATED DISORDERS (EG, HEREDITARY BREAST CANCER, HEREDITARY OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER); GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 10 GENES, ALWAYS INCLUDING BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, AND TP53
|
81433
|
HEREDITARY BREAST CANCER-RELATED DISORDERS (EG, HEREDITARY BREAST CANCER, HEREDITARY OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER); DUPLICATION/DELETION ANALYSIS PANEL, MUST INCLUDE ANALYSES FOR BRCA1, BRCA2, MLH1, MSH2, AND STK11
|
81434
|
HEREDITARY RETINAL DISORDERS (EG, RETINITIS PIGMENTOSA, LEBER CONGENITAL AMAUROSIS, CONE-ROD DYSTROPHY), GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 15 GENES, INCLUDING ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, AND USH2A
|
81435
|
HEREDITARY COLON CANCER DISORDERS (EG, LYNCH SYNDROME, PTEN HAMARTOMA SYNDROME, COWDEN SYNDROME, FAMILIAL ADENOMATOSIS POLYPOSIS); GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 10 GENES, INCLUDING APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, AND STK11
|
81436
|
HEREDITARY COLON CANCER DISORDERS (EG, LYNCH SYNDROME, PTEN HAMARTOMA SYNDROME, COWDEN SYNDROME, FAMILIAL ADENOMATOSIS POLYPOSIS); DUPLICATION/DELETION ANALYSIS PANEL, MUST INCLUDE ANALYSIS OF AT LEAST 5 GENES, INCLUDING MLH1, MSH2, EPCAM, SMAD4, AND STK11
|
81437
|
HEREDITARY NEUROENDOCRINE TUMOR DISORDERS (EG, MEDULLARY THYROID CARCINOMA, PARATHYROID CARCINOMA, MALIGNANT PHEOCHROMOCYTOMA OR PARAGANGLIOMA); GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 6 GENES, INCLUDING MAX, SDHB, SDHC, SDHD, TMEM127, AND VHL
|
81438
|
HEREDITARY NEUROENDOCRINE TUMOR DISORDERS (EG, MEDULLARY THYROID CARCINOMA, PARATHYROID CARCINOMA, MALIGNANT PHEOCHROMOCYTOMA OR PARAGANGLIOMA); DUPLICATION/DELETION ANALYSIS PANEL, MUST INCLUDE ANALYSES FOR SDHB, SDHC, SDHD, AND VHL
|
81439
|
HEREDITARY CARDIOMYOPATHY (EG, HYPERTROPHIC CARDIOMYOPATHY, DILATED CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY), GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 5 CARDIOMYOPATHY-RELATED GENES (EG, DSG2, MYBPC3, MYH7, PKP2, TTN)
|
81440
|
NUCLEAR ENCODED MITOCHONDRIAL GENES (EG, NEUROLOGIC OR MYOPATHIC PHENOTYPES), GENOMIC SEQUENCE PANEL, MUST INCLUDE ANALYSIS OF AT LEAST 100 GENES, INCLUDING BCS1L, C10ORF2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, AND TYMP
|
81441
|
INHERITED BONE MARROW FAILURE SYNDROMES (IBMFS) (EG, FANCONI ANEMIA, DYSKERATOSIS CONGENITA, DIAMOND-BLACKFAN ANEMIA, SHWACHMAN-DIAMOND SYNDROME, GATA2 DEFICIENCY SYNDROME, CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA) SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 30 GENES, INCLUDING BRCA2, BRIP1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, GATA1, GATA2, MPL, NHP2, NOP10, PALB2, RAD51C, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SBDS, TERT, AND TINF2
|
81442
|
NOONAN SPECTRUM DISORDERS (EG, NOONAN SYNDROME, CARDIO-FACIO-CUTANEOUS SYNDROME, COSTELLO SYNDROME, LEOPARD SYNDROME, NOONAN-LIKE SYNDROME), GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 12 GENES, INCLUDING BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, AND SOS1
|
81443
|
GENETIC TESTING FOR SEVERE INHERITED CONDITIONS (EG, CYSTIC FIBROSIS, ASHKENAZI JEWISH-ASSOCIATED DISORDERS [EG, BLOOM SYNDROME, CANAVAN DISEASE, FANCONI ANEMIA TYPE C, MUCOLIPIDOSIS TYPE VI, GAUCHER DISEASE, TAY-SACHS DISEASE], BETA HEMOGLOBINOPATHIES, PHENYLKETONURIA, GALACTOSEMIA), GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 15 GENES (EG, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH)
|
81448
|
HEREDITARY PERIPHERAL NEUROPATHIES (EG, CHARCOT-MARIE-TOOTH, SPASTIC PARAPLEGIA), GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 5 PERIPHERAL NEUROPATHY-RELATED GENES (EG, BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, SPTLC1)
|
81460
|
WHOLE MITOCHONDRIAL GENOME (EG, LEIGH SYNDROME, MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES [MELAS], MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS [MERFF], NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA [NARP], LEBER HEREDITARY OPTIC NEUROPATHY [LHON]), GENOMIC SEQUENCE, MUST INCLUDE SEQUENCE ANALYSIS OF ENTIRE MITOCHONDRIAL GENOME WITH HETEROPLASMY DETECTION
|
81465
|
WHOLE MITOCHONDRIAL GENOME LARGE DELETION ANALYSIS PANEL (EG, KEARNS-SAYRE SYNDROME, CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA), INCLUDING HETEROPLASMY DETECTION, IF PERFORMED
|
81470
|
X-LINKED INTELLECTUAL DISABILITY (XLID) (EG, SYNDROMIC AND NON-SYNDROMIC XLID); GENOMIC SEQUENCE ANALYSIS PANEL, MUST INCLUDE SEQUENCING OF AT LEAST 60 GENES, INCLUDING ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, AND SLC16A2
|
81471
|
X-LINKED INTELLECTUAL DISABILITY (XLID) (EG, SYNDROMIC AND NON-SYNDROMIC XLID); DUPLICATION/DELETION GENE ANALYSIS, MUST INCLUDE ANALYSIS OF AT LEAST 60 GENES, INCLUDING ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, AND SLC16A2
|
81493
|
CORONARY ARTERY DISEASE, MRNA, GENE EXPRESSION PROFILING BY REAL-TIME RT-PCR OF 23 GENES, UTILIZING WHOLE PERIPHERAL BLOOD, ALGORITHM REPORTED AS A RISK SCORE
|
81554
|
PULMONARY DISEASE (IDIOPATHIC PULMONARY FIBROSIS [IPF]), MRNA, GENE EXPRESSION ANALYSIS OF 190 GENES, UTILIZING TRANSBRONCHIAL BIOPSIES, DIAGNOSTIC ALGORITHM REPORTED AS CATEGORICAL RESULT (EG, POSITIVE OR NEGATIVE FOR HIGH PROBABILITY OF USUAL INTERSTITIAL PNEUMONIA [UIP])
|
0004M
|
SCOLIOSIS, DNA ANALYSIS OF 53 SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS), USING SALIVA, PROGNOSTIC ALGORITHM REPORTED AS A RISK SCORE
|
0001U
|
RED BLOOD CELL ANTIGEN TYPING, DNA, HUMAN ERYTHROCYTE ANTIGEN GENE ANALYSIS OF 35 ANTIGENS FROM 11 BLOOD GROUPS, UTILIZING WHOLE BLOOD, COMMON RBC ALLELES REPORTED
|
0029U
|
DRUG METABOLISM (ADVERSE DRUG REACTIONS AND DRUG RESPONSE), TARGETED SEQUENCE ANALYSIS (IE, CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, SLCO1B1, VKORC1 AND RS12777823)
|
0030U
|
DRUG METABOLISM (WARFARIN DRUG RESPONSE), TARGETED SEQUENCE ANALYSIS (IE, CYP2C9, CYP4F2, VKORC1, RS12777823)
|
0031U
|
CYP1A2 (CYTOCHROME P450 FAMILY 1, SUBFAMILY A, MEMBER 2) (EG, DRUG METABOLISM) GENE ANALYSIS, COMMON VARIANTS (IE, *1F, *1K, *6, *7)
|
0032U
|
COMT (CATECHOL-O-METHYLTRANSFERASE) (DRUG METABOLISM) GENE ANALYSIS, C.472G>A (RS4680) VARIANT
|
0033U
|
HTR2A (5-HYDROXYTRYPTAMINE RECEPTOR 2A), HTR2C (5-HYDROXYTRYPTAMINE RECEPTOR 2C) (EG, CITALOPRAM METABOLISM) GENE ANALYSIS, COMMON VARIANTS (IE, HTR2A RS7997012 [C.614-2211T>C], HTR2C RS3813929 [C.-759C>T] AND RS1414334 [C.551-3008C>G])
|
0034U
|
TPMT (THIOPURINE S-METHYLTRANSFERASE), NUDT15 (NUDIX HYDROXYLASE 15)(EG, THIOPURINE METABOLISM), GENE ANALYSIS, COMMON VARIANTS (IE, TPMT *2, *3A, *3B, *3C, *4, *5, *6, *8, *12; NUDT15 *3, *4, *5)
|
0070U
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM) GENE ANALYSIS, COMMON AND SELECT RARE VARIANTS (IE, *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14A, *14B, *15, *17, *29, *35, *36, *41, *57, *61, *63, *68, *83, *XN)
|
0071U
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM) GENE ANALYSIS, FULL GENE SEQUENCE (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0072U
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM) GENE ANALYSIS, TARGETED SEQUENCE ANALYSIS (IE, CYP2D6-2D7 HYBRID GENE) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0073U
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM) GENE ANALYSIS, TARGETED SEQUENCE ANALYSIS (IE, CYP2D7-2D6 HYBRID GENE) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0074U
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM) GENE ANALYSIS, TARGETED SEQUENCE ANALYSIS (IE, NON-DUPLICATED GENE WHEN DUPLICATION/MULTIPLICATION IS TRANS) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0075U
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM) GENE ANALYSIS, TARGETED SEQUENCE ANALYSIS (IE, 5' GENE DUPLICATION/MULTIPLICATION) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0076U
|
CYP2D6 (CYTOCHROME P450, FAMILY 2, SUBFAMILY D, POLYPEPTIDE 6) (EG, DRUG METABOLISM) GENE ANALYSIS, TARGETED SEQUENCE ANALYSIS (IE, 3' GENE DUPLICATION/ MULTIPLICATION) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0078U
|
PAIN MANAGEMENT (OPIOID-USE DISORDER) GENOTYPING PANEL, 16 COMMON VARIANTS (IE, ABCB1, COMT, DAT1, DBH, DOR, DRD1, DRD2, DRD4, GABA, GAL, HTR2A, HTTLPR, MTHFR, MUOR, OPRK1, OPRM1), BUCCAL SWAB OR OTHER GERMLINE TISSUE SAMPLE, ALGORITHM REPORTED AS POSITIVE OR NEGATIVE RISK OF OPIOID-USE DISORDER
|
0079U
|
COMPARATIVE DNA ANALYSIS USING MULTIPLE SELECTED SINGLE-NUCLEOTIDE POLYMORPHISMS (SNPS), URINE AND BUCCAL DNA, FOR SPECIMEN IDENTITY VERIFICATION
|
0084U
|
RED BLOOD CELL ANTIGEN TYPING, DNA, GENOTYPING OF 10 BLOOD GROUPS WITH PHENOTYPE PREDICTION OF 37 RED BLOOD CELL ANTIGENS
|
0094U
|
GENOME (EG, UNEXPLAINED CONSTITUTIONAL OR HERITABLE DISORDER OR SYNDROME), RAPID SEQUENCE ANALYSIS
|
0101U
|
HEREDITARY COLON CANCER DISORDERS (EG, LYNCH SYNDROME, PTEN HAMARTOMA SYNDROME, COWDEN SYNDROME, FAMILIAL ADENOMATOSIS POLYPOSIS), GENOMIC SEQUENCE ANALYSIS PANEL UTILIZING A COMBINATION OF NGS, SANGER, MLPA, AND ARRAY CGH, WITH MMRNA ANALYTICS TO RESOLVE VARIANTS OF UNKNOWN SIGNIFICANCE WHEN INDICATED (15 GENES [SEQUENCING AND DELETION/DUPLICATION], EPCAM AND GREM1 [DELETION/DUPLICATION ONLY])
|
0102U
|
HEREDITARY BREAST CANCER-RELATED DISORDERS (EG, HEREDITARY BREAST CANCER, HEREDITARY OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER), GENOMIC SEQUENCE ANALYSIS PANEL UTILIZING A COMBINATION OF NGS, SANGER, MLPA, AND ARRAY CGH, WITH MMRNA ANALYTICS TO RESOLVE VARIANTS OF UNKNOWN SIGNIFICANCE WHEN INDICATED (17 GENES [SEQUENCING AND DELETION/DUPLICATION])
|
0103U
|
HEREDITARY OVARIAN CANCER (EG, HEREDITARY OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER), GENOMIC SEQUENCE ANALYSIS PANEL UTILIZING A COMBINATION OF NGS, SANGER, MLPA, AND ARRAY CGH, WITH MMRNA ANALYTICS TO RESOLVE VARIANTS OF UNKNOWN SIGNIFICANCE WHEN INDICATED (24 GENES [SEQUENCING AND DELETION/DUPLICATION], EPCAM [DELETION/DUPLICATION ONLY])
|
0129U
|
HEREDITARY BREAST CANCER-RELATED DISORDERS (EG, HEREDITARY BREAST CANCER, HEREDITARY OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER), GENOMIC SEQUENCE ANALYSIS AND DELETION/DUPLICATION ANALYSIS PANEL (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, AND TP53)
|
0130U
|
HEREDITARY COLON CANCER DISORDERS (EG, LYNCH SYNDROME, PTEN HAMARTOMA SYNDROME, COWDEN SYNDROME, FAMILIAL ADENOMATOSIS POLYPOSIS), TARGETED MRNA SEQUENCE ANALYSIS PANEL (APC, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, AND TP53) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0131U
|
HEREDITARY BREAST CANCER-RELATED DISORDERS (EG, HEREDITARY BREAST CANCER, HEREDITARY OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER), TARGETED MRNA SEQUENCE ANALYSIS PANEL (13 GENES) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0132U
|
HEREDITARY OVARIAN CANCER-RELATED DISORDERS (EG, HEREDITARY BREAST CANCER, HEREDITARY OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER), TARGETED MRNA SEQUENCE ANALYSIS PANEL (17 GENES) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0133U
|
HEREDITARY PROSTATE CANCER-RELATED DISORDERS, TARGETED MRNA SEQUENCE ANALYSIS PANEL (11 GENES) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0134U
|
HEREDITARY PAN CANCER (EG, HEREDITARY BREAST AND OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER, HEREDITARY COLORECTAL CANCER), TARGETED MRNA SEQUENCE ANALYSIS PANEL (18 GENES) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0135U
|
HEREDITARY GYNECOLOGICAL CANCER (EG, HEREDITARY BREAST AND OVARIAN CANCER, HEREDITARY ENDOMETRIAL CANCER, HEREDITARY COLORECTAL CANCER), TARGETED MRNA SEQUENCE ANALYSIS PANEL (12 GENES) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0136U
|
ATM (ATAXIA TELANGIECTASIA MUTATED) (EG, ATAXIA TELANGIECTASIA) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0137U
|
PALB2 (PARTNER AND LOCALIZER OF BRCA2) (EG, BREAST AND PANCREATIC CANCER) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0138U
|
BRCA1 (BRCA1, DNA REPAIR ASSOCIATED), BRCA2 (BRCA2, DNA REPAIR ASSOCIATED) (EG, HEREDITARY BREAST AND OVARIAN CANCER) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0156U
|
COPY NUMBER (EG, INTELLECTUAL DISABILITY, DYSMORPHOLOGY), SEQUENCE ANALYSIS
|
0157U
|
APC (APC REGULATOR OF WNT SIGNALING PATHWAY) (EG, FAMILIAL ADENOMATOSIS POLYPOSIS [FAP]) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0158U
|
MLH1 (MUTL HOMOLOG 1) (EG, HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0159U
|
MSH2 (MUTS HOMOLOG 2) (EG, HEREDITARY COLON CANCER, LYNCH SYNDROME) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0160U
|
MSH6 (MUTS HOMOLOG 6) (EG, HEREDITARY COLON CANCER, LYNCH SYNDROME) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0161U
|
PMS2 (PMS1 HOMOLOG 2, MISMATCH REPAIR SYSTEM COMPONENT) (EG, HEREDITARY NONPOLYPOSIS COLORECTAL CANCER, LYNCH SYNDROME) MRNA SEQUENCE ANALYSIS (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0162U
|
HEREDITARY COLON CANCER (LYNCH SYNDROME), TARGETED MRNA SEQUENCE ANALYSIS PANEL (MLH1, MSH2, MSH6, PMS2) (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
0169U
|
NUDT15 (NUDIX HYDROLASE 15) AND TPMT (THIOPURINE S-METHYLTRANSFERASE) (EG, DRUG METABOLISM) GENE ANALYSIS, COMMON VARIANTS
|
0170U
|
NEUROLOGY (AUTISM SPECTRUM DISORDER [ASD]), RNA, NEXT-GENERATION SEQUENCING, SALIVA, ALGORITHMIC ANALYSIS, AND RESULTS REPORTED AS PREDICTIVE PROBABILITY OF ASD DIAGNOSIS
|
0173U
|
PSYCHIATRY (IE, DEPRESSION, ANXIETY), GENOMIC ANALYSIS PANEL, INCLUDES VARIANT ANALYSIS OF 14 GENES
|
0175U
|
PSYCHIATRY (EG, DEPRESSION, ANXIETY), GENOMIC ANALYSIS PANEL, VARIANT ANALYSIS OF 15 GENES
|
0180U
|
RED CELL ANTIGEN (ABO BLOOD GROUP) GENOTYPING (ABO), GENE ANALYSIS SANGER/CHAIN TERMINATION/CONVENTIONAL SEQUENCING, ABO (ABO, ALPHA 1-3-N-ACETYLGALACTOSAMINYLTRANSFERASE AND ALPHA 1-3-GALACTOSYLTRANSFERASE) GENE, INCLUDING SUBTYPING, 7 EXONS
|
0181U
|
RED CELL ANTIGEN (COLTON BLOOD GROUP) GENOTYPING (CO), GENE ANALYSIS, AQP1 (AQUAPORIN 1 [COLTON BLOOD GROUP]) EXON 1
|
0182U
|
RED CELL ANTIGEN (CROMER BLOOD GROUP) GENOTYPING (CROM), GENE ANALYSIS, CD55 (CD55 MOLECULE [CROMER BLOOD GROUP]) EXONS 1-10
|
0183U
|
RED CELL ANTIGEN (DIEGO BLOOD GROUP) GENOTYPING (DI), GENE ANALYSIS, SLC4A1 (SOLUTE CARRIER FAMILY 4 MEMBER 1 [DIEGO BLOOD GROUP]) EXON 19
|
0184U
|
RED CELL ANTIGEN (DOMBROCK BLOOD GROUP) GENOTYPING (DO), GENE ANALYSIS, ART4 (ADP-RIBOSYLTRANSFERASE 4 [DOMBROCK BLOOD GROUP]) EXON 2
|
0185U
|
RED CELL ANTIGEN (H BLOOD GROUP) GENOTYPING (FUT1), GENE ANALYSIS, FUT1 (FUCOSYLTRANSFERASE 1 [H BLOOD GROUP]) EXON 4
|
0186U
|
RED CELL ANTIGEN (H BLOOD GROUP) GENOTYPING (FUT2), GENE ANALYSIS, FUT2 (FUCOSYLTRANSFERASE 2) EXON 2
|
0187U
|
RED CELL ANTIGEN (DUFFY BLOOD GROUP) GENOTYPING (FY), GENE ANALYSIS, ACKR1 (ATYPICAL CHEMOKINE RECEPTOR 1 [DUFFY BLOOD GROUP]) EXONS 1-2
|
0188U
|
RED CELL ANTIGEN (GERBICH BLOOD GROUP) GENOTYPING (GE), GENE ANALYSIS, GYPC (GLYCOPHORIN C [GERBICH BLOOD GROUP]) EXONS 1-4
|
0189U
|
RED CELL ANTIGEN (MNS BLOOD GROUP) GENOTYPING (GYPA), GENE ANALYSIS, GYPA (GLYCOPHORIN A [MNS BLOOD GROUP]) INTRONS 1, 5, EXON 2
|
0190U
|
RED CELL ANTIGEN (MNS BLOOD GROUP) GENOTYPING (GYPB), GENE ANALYSIS, GYPB (GLYCOPHORIN B [MNS BLOOD GROUP]) INTRONS 1, 5, PSEUDOEXON 3
|
0191U
|
RED CELL ANTIGEN (INDIAN BLOOD GROUP) GENOTYPING (IN), GENE ANALYSIS, CD44 (CD44 MOLECULE [INDIAN BLOOD GROUP]) EXONS 2, 3, 6
|
0192U
|
RED CELL ANTIGEN (KIDD BLOOD GROUP) GENOTYPING (JK), GENE ANALYSIS, SLC14A1 (SOLUTE CARRIER FAMILY 14 MEMBER 1 [KIDD BLOOD GROUP]) GENE PROMOTER, EXON 9
|
0193U
|
RED CELL ANTIGEN (JR BLOOD GROUP) GENOTYPING (JR), GENE ANALYSIS, ABCG2 (ATP BINDING CASSETTE SUBFAMILY G MEMBER 2 [JUNIOR BLOOD GROUP]) EXONS 2-26
|
0194U
|
RED CELL ANTIGEN (KELL BLOOD GROUP) GENOTYPING (KEL), GENE ANALYSIS, KEL (KELL METALLO-ENDOPEPTIDASE [KELL BLOOD GROUP]) EXON 8
|
0195U
|
KLF1 (KRUPPEL-LIKE FACTOR 1), TARGETED SEQUENCING (IE, EXON 13)
|
0196U
|
RED CELL ANTIGEN (LUTHERAN BLOOD GROUP) GENOTYPING (LU), GENE ANALYSIS, BCAM (BASAL CELL ADHESION MOLECULE [LUTHERAN BLOOD GROUP]) EXON 3
|
0197U
|
RED CELL ANTIGEN (LANDSTEINER-WIENER BLOOD GROUP) GENOTYPING (LW), GENE ANALYSIS, ICAM4 (INTERCELLULAR ADHESION MOLECULE 4 [LANDSTEINER-WIENER BLOOD GROUP]) EXON 1
|
0198U
|
RED CELL ANTIGEN (RH BLOOD GROUP) GENOTYPING (RHD AND RHCE), GENE ANALYSIS SANGER/CHAIN TERMINATION/CONVENTIONAL SEQUENCING, RHD (RH BLOOD GROUP D ANTIGEN) EXONS 1-10 AND RHCE (RH BLOOD GROUP CCEE ANTIGENS) EXON 5
|
0199U
|
RED CELL ANTIGEN (SCIANNA BLOOD GROUP) GENOTYPING (SC), GENE ANALYSIS, ERMAP (ERYTHROBLAST MEMBRANE ASSOCIATED PROTEIN [SCIANNA BLOOD GROUP]) EXONS 4, 12
|
0200U
|
RED CELL ANTIGEN (KX BLOOD GROUP) GENOTYPING (XK), GENE ANALYSIS, XK (X-LINKED KX BLOOD GROUP) EXONS 1-3
|
0201U
|
RED CELL ANTIGEN (YT BLOOD GROUP) GENOTYPING (YT), GENE ANALYSIS, ACHE (ACETYLCHOLINESTERASE [CARTWRIGHT BLOOD GROUP]) EXON 2
|
0203U
|
AUTOIMMUNE (INFLAMMATORY BOWEL DISEASE), MRNA, GENE EXPRESSION PROFILING BY QUANTITATIVE RT-PCR, 17 GENES (15 TARGET AND 2 REFERENCE GENES), WHOLE BLOOD, REPORTED AS A CONTINUOUS RISK SCORE AND CLASSIFICATION OF INFLAMMATORY BOWEL DISEASE AGGRESSIVENESS
|
0205U
|
OPHTHALMOLOGY (AGE-RELATED MACULAR DEGENERATION), ANALYSIS OF 3 GENE VARIANTS (2 CFH GENE, 1 ARMS2 GENE), USING PCR AND MALDI-TOF, BUCCAL SWAB, REPORTED AS POSITIVE OR NEGATIVE FOR NEOVASCULAR AGE-RELATED MACULAR-DEGENERATION RISK ASSOCIATED WITH ZINC SUPPLEMENTS
|
0209U
|
CYTOGENOMIC CONSTITUTIONAL (GENOME-WIDE) ANALYSIS, INTERROGATION OF GENOMIC REGIONS FOR COPY NUMBER, STRUCTURAL CHANGES AND AREAS OF HOMOZYGOSITY FOR CHROMOSOMAL ABNORMALITIES
|
0212U
|
RARE DISEASES (CONSTITUTIONAL/HERITABLE DISORDERS), WHOLE GENOME AND MITOCHONDRIAL DNA SEQUENCE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT GENE EXPANSIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS, BLOOD OR SALIVA, IDENTIFICATION AND CATEGORIZATION OF GENETIC VARIANTS, PROBAND
|
0213U
|
RARE DISEASES (CONSTITUTIONAL/HERITABLE DISORDERS), WHOLE GENOME AND MITOCHONDRIAL DNA SEQUENCE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT GENE EXPANSIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS, BLOOD OR SALIVA, IDENTIFICATION AND CATEGORIZATION OF GENETIC VARIANTS, EACH COMPARATOR GENOME (EG, PARENT, SIBLING)
|
0214U
|
RARE DISEASES (CONSTITUTIONAL/HERITABLE DISORDERS), WHOLE EXOME AND MITOCHONDRIAL DNA SEQUENCE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT GENE EXPANSIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS, BLOOD OR SALIVA, IDENTIFICATION AND CATEGORIZATION OF GENETIC VARIANTS, PROBAND
|
0215U
|
RARE DISEASES (CONSTITUTIONAL/HERITABLE DISORDERS), WHOLE EXOME AND MITOCHONDRIAL DNA SEQUENCE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT GENE EXPANSIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS, BLOOD OR SALIVA, IDENTIFICATION AND CATEGORIZATION OF GENETIC VARIANTS, EACH COMPARATOR EXOME (EG, PARENT, SIBLING)
|
0216U
|
NEUROLOGY (INHERITED ATAXIAS), GENOMIC DNA SEQUENCE ANALYSIS OF 12 COMMON GENES INCLUDING SMALL SEQUENCE CHANGES, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT GENE EXPANSIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS, BLOOD OR SALIVA, IDENTIFICATION AND CATEGORIZATION OF GENETIC VARIANTS
|
0217U
|
NEUROLOGY (INHERITED ATAXIAS), GENOMIC DNA SEQUENCE ANALYSIS OF 51 GENES INCLUDING SMALL SEQUENCE CHANGES, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT GENE EXPANSIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS, BLOOD OR SALIVA, IDENTIFICATION AND CATEGORIZATION OF GENETIC VARIANTS
|
0218U
|
NEUROLOGY (MUSCULAR DYSTROPHY), DMD GENE SEQUENCE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES, DELETIONS, DUPLICATIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS, BLOOD OR SALIVA, IDENTIFICATION AND CHARACTERIZATION OF GENETIC VARIANTS
|
0221U
|
RED CELL ANTIGEN (ABO BLOOD GROUP) GENOTYPING (ABO), GENE ANALYSIS, NEXT-GENERATION SEQUENCING, ABO (ABO, ALPHA 1-3-N-ACETYLGALACTOSAMINYLTRANSFERASE AND ALPHA 1-3-GALACTOSYLTRANSFERASE) GENE
|
0222U
|
RED CELL ANTIGEN (RH BLOOD GROUP) GENOTYPING (RHD AND RHCE), GENE ANALYSIS, NEXT-GENERATION SEQUENCING, RH PROXIMAL PROMOTER, EXONS 1-10, PORTIONS OF INTRONS 2-3
|
0230U
|
AR (ANDROGEN RECEPTOR) (EG, SPINAL AND BULBAR MUSCULAR ATROPHY, KENNEDY DISEASE, X CHROMOSOME INACTIVATION), FULL SEQUENCE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT (STR) EXPANSIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0231U
|
CACNA1A (CALCIUM VOLTAGE-GATED CHANNEL SUBUNIT ALPHA 1A) (EG, SPINOCEREBELLAR ATAXIA), FULL GENE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT (STR) GENE EXPANSIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0232U
|
CSTB (CYSTATIN B) (EG, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 1A, UNVERRICHT-LUNDBORG DISEASE), FULL GENE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT (STR) EXPANSIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0233U
|
FXN (FRATAXIN) (EG, FRIEDREICH ATAXIA), GENE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, SHORT TANDEM REPEAT (STR) EXPANSIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0234U
|
MECP2 (METHYL CPG BINDING PROTEIN 2) (EG, RETT SYNDROME), FULL GENE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0235U
|
PTEN (PHOSPHATASE AND TENSIN HOMOLOG) (EG, COWDEN SYNDROME, PTEN HAMARTOMA TUMOR SYNDROME), FULL GENE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0236U
|
SMN1 (SURVIVAL OF MOTOR NEURON 1, TELOMERIC) AND SMN2 (SURVIVAL OF MOTOR NEURON 2, CENTROMERIC) (EG, SPINAL MUSCULAR ATROPHY) FULL GENE ANALYSIS, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DUPLICATIONS AND DELETIONS, AND MOBILE ELEMENT INSERTIONS
|
0237U
|
CARDIAC ION CHANNELOPATHIES (EG, BRUGADA SYNDROME, LONG QT SYNDROME, SHORT QT SYNDROME, CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA), GENOMIC SEQUENCE ANALYSIS PANEL INCLUDING ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, AND SCN5A, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0238U
|
ONCOLOGY (LYNCH SYNDROME), GENOMIC DNA SEQUENCE ANALYSIS OF MLH1, MSH2, MSH6, PMS2, AND EPCAM, INCLUDING SMALL SEQUENCE CHANGES IN EXONIC AND INTRONIC REGIONS, DELETIONS, DUPLICATIONS, MOBILE ELEMENT INSERTIONS, AND VARIANTS IN NON-UNIQUELY MAPPABLE REGIONS
|
0246U
|
RED BLOOD CELL ANTIGEN TYPING, DNA, GENOTYPING OF AT LEAST 16 BLOOD GROUPS WITH PHENOTYPE PREDICTION OF AT LEAST 51 RED BLOOD CELL ANTIGENS
|
0258U
|
AUTOIMMUNE (PSORIASIS), MRNA, NEXTGENERATION SEQUENCING, GENE EXPRESSION PROFILING OF 50-100 GENES, SKIN-SURFACE COLLECTION USING ADHESIVE PATCH, ALGORITHM REPORTED AS LIKELIHOOD OF RESPONSE TO PSORIASIS BIOLOGICS
|
0260U
|
RARE DISEASES (CONSTITUTIONAL/HERITABLE DISORDERS), IDENTIFICATION OF COPY NUMBER VARIATIONS, INVERSIONS, INSERTIONS, TRANSLOCATIONS, AND OTHER STRUCTURAL VARIANTS BY OPTICAL GENOME MAPPING
|
0264U
|
RARE DISEASES (CONSTITUTIONAL/HERITABLE DISORDERS), IDENTIFICATION OF COPY NUMBER VARIATIONS, INVERSIONS, INSERTIONS, TRANSLOCATIONS, AND OTHER STRUCTURAL VARIANTS BY OPTICAL GENOME MAPPING
|
0265U
|
RARE CONSTITUTIONAL AND OTHER HERITABLE DISORDERS, WHOLE GENOME AND MITOCHONDRIAL DNA SEQUENCE ANALYSIS, BLOOD, FROZEN AND FORMALIN-FIXED PARAFFINEMBEDDED (FFPE) TISSUE, SALIVA, BUCCAL SWABS OR CELL LINES, IDENTIFICATION OF SINGLE NUCLEOTIDE AND COPY NUMBER VARIANTS
|
0266U
|
UNEXPLAINED CONSTITUTIONAL OR OTHER HERITABLE DISORDERS OR SYNDROMES, TISSUESPECIFIC GENE EXPRESSION BY WHOLETRANSCRIPTOME AND NEXT-GENERATION SEQUENCING, BLOOD, FORMALIN-FIXED PARAFFINEMBEDDED (FFPE) TISSUE OR FRESH FROZEN TISSUE, REPORTED AS PRESENCE OR ABSENCE OF SPLICING OR EXPRESSION CHANGES
|
0267U
|
RARE CONSTITUTIONAL AND OTHER HERITABLE DISORDERS, IDENTIFICATION OF COPY NUMBER VARIATIONS, INVERSIONS, INSERTIONS, TRANSLOCATIONS, AND OTHER STRUCTURAL VARIANTS BY OPTICAL GENOME MAPPING AND WHOLE GENOME SEQUENCING
|
0268U
|
HEMATOLOGY (ATYPICAL HEMOLYTIC UREMIC SYNDROME [AHUS]), GENOMIC SEQUENCE ANALYSIS OF 15 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0269U
|
HEMATOLOGY (AUTOSOMAL DOMINANT CONGENITAL THROMBOCYTOPENIA), GENOMIC SEQUENCE ANALYSIS OF 14 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0270U
|
HEMATOLOGY (CONGENITAL COAGULATION DISORDERS), GENOMIC SEQUENCE ANALYSIS OF 20 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0271U
|
HEMATOLOGY (CONGENITAL NEUTROPENIA), GENOMIC SEQUENCE ANALYSIS OF 23 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0272U
|
HEMATOLOGY (GENETIC BLEEDING DISORDERS), GENOMIC SEQUENCE ANALYSIS OF 51 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID, COMPREHENSIVE
|
0273U
|
HEMATOLOGY (GENETIC HYPERFIBRINOLYSIS, DELAYED BLEEDING), GENOMIC SEQUENCE ANALYSIS OF 8 GENES (F13A1, F13B, FGA, FGB, FGG, SERPINA1, SERPINE1, SERPINF2, PLAU), BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0274U
|
HEMATOLOGY (GENETIC PLATELET DISORDERS), GENOMIC SEQUENCE ANALYSIS OF 43 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0276U
|
HEMATOLOGY (INHERITED THROMBOCYTOPENIA), GENOMIC SEQUENCE ANALYSIS OF 42 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0277U
|
HEMATOLOGY (GENETIC PLATELET FUNCTION DISORDER), GENOMIC SEQUENCE ANALYSIS OF 31 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0278U
|
HEMATOLOGY (GENETIC THROMBOSIS), GENOMIC SEQUENCE ANALYSIS OF 12 GENES, BLOOD, BUCCAL SWAB, OR AMNIOTIC FLUID
|
0282U
|
RED BLOOD CELL ANTIGEN TYPING, DNA, GENOTYPING OF 12 BLOOD GROUP SYSTEM GENES TO PREDICT 44 RED BLOOD CELL ANTIGEN PHENOTYPES
|
0286U
|
CEP72 (CENTROSOMAL PROTEIN, 72-KDA), NUDT15 (NUDIX HYDROLASE 15) AND TPMT (THIOPURINE S-METHYLTRANSFERASE) (EG, DRUG METABOLISM) GENE ANALYSIS, COMMON VARIANTS
|
0289U
|
NEUROLOGY (ALZHEIMER DISEASE), MRNA, GENE EXPRESSION PROFILING BY RNA SEQUENCING OF 24 GENES, WHOLE BLOOD, ALGORITHM REPORTED AS PREDICTIVE RISK SCORE
|
0290U
|
PAIN MANAGEMENT, MRNA, GENE EXPRESSION PROFILING BY RNA SEQUENCING OF 36 GENES, WHOLE BLOOD, ALGORITHM REPORTED AS PREDICTIVE RISK SCORE
|
0291U
|
PSYCHIATRY (MOOD DISORDERS), MRNA, GENE EXPRESSION PROFILING BY RNA SEQUENCING 144 GENES, WHOLE BLOOD, ALGORITHM REPORTED AS PREDICTIVE RISK SCORE
|
0292U
|
PSYCHIATRY (STRESS DISORDERS), MRNA, GENE EXPRESSION PROFILING BY RNA SEQUENCING OF 72 GENES, WHOLE BLOOD, ALGORITHM REPORTED AS PREDICTIVE RISK SCORE
|
0293U
|
PSYCHIATRY (SUICIDAL IDEATION), MRNA, GENE EXPRESSION PROFILING BY RNA SEQUENCING OF 54 GENES, WHOLE BLOOD, ALGORITHM REPORTED AS PREDICTIVE RISK SCORE
|
0294U
|
LONGEVITY AND MORTALITY RISK, MRNA, GENE EXPRESSION PROFILING BY RNA SEQUENCING OF 18 GENES, WHOLE BLOOD, ALGORITHM REPORTED AS PREDICTIVE RISK SCORE
|
0318U
|
PEDIATRICS (CONGENITAL EPIGENETIC DISORDERS), WHOLE GENOME METHYLATION ANALYSIS BY MICROARRAY FOR 50 OR MORE GENES, BLOOD
|
0345U
|
PSYCHIATRY (EG, DEPRESSION, ANXIETY, ATTENTION DEFICIT HYPERACTIVITY DISORDER [ADHD]), GENOMIC ANALYSIS PANEL, VARIANT ANALYSIS OF 15 GENES, INCLUDING DELETION/DUPLICATION ANALYSIS OF CYP2D6
|
0347U
|
DRUG METABOLISM OR PROCESSING (MULTIPLE CONDITIONS), WHOLE BLOOD OR BUCCAL SPECIMEN, DNA ANALYSIS, 16 GENE REPORT, WITH VARIANT ANALYSIS AND REPORTED PHENOTYPES
|
0348U
|
DRUG METABOLISM OR PROCESSING (MULTIPLE CONDITIONS), WHOLE BLOOD OR BUCCAL SPECIMEN, DNA ANALYSIS, 25 GENE REPORT, WITH VARIANT ANALYSIS AND REPORTED PHENOTYPES
|
0349U
|
DRUG METABOLISM OR PROCESSING (MULTIPLE CONDITIONS), WHOLE BLOOD OR BUCCAL SPECIMEN, DNA ANALYSIS, 27 GENE REPORT, WITH VARIANT ANALYSIS, INCLUDING REPORTED PHENOTYPES AND IMPACTED GENE-DRUG INTERACTIONS
|
0350U
|
DRUG METABOLISM OR PROCESSING (MULTIPLE CONDITIONS), WHOLE BLOOD OR BUCCAL SPECIMEN, DNA ANALYSIS, 27 GENE REPORT, WITH VARIANT ANALYSIS AND REPORTED PHENOTYPES
|
0355U
|
APOL1 (APOLIPOPROTEIN L1) (EG, CHRONIC KIDNEY DISEASE), RISK VARIANTS (G1, G2)
|