81105 - 81112
|
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) - 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
|
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
|
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)
|
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)
|
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)
|
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
|
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)
|
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
|
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
|
81327
|
SEPT9 (SEPTIN9) (EG, COLORECTAL CANCER) PROMOTER METHYLATION ANALYSIS
|
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
|
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)
|
81346
|
TYMS (THYMIDYLATE SYNTHETASE) (EG, 5-FLUOROURACIL/5-FU DRUG METABOLISM), GENE ANALYSIS, COMMON VARIANT(S) (EG, TANDEM REPEAT VARIANT)
|
81349
|
CYTOGENOMIC (GENOME-WIDE) ANALYSIS FOR CONSTITUTIONAL CHROMOSOMAL ABNORMALITIES; INTERROGATION OF GENOMIC REGIONS FOR COPY NUMBER AND LOSS-OF-HETEROZYGOSITY VARIANTS, LOW-PASS SEQUENCING ANALYSIS
|
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 - 81364
|
HBB (HEMOGLOBIN, SUBUNIT BETA) (EG, SICKLE CELL ANEMIA, BETA THALASSEMIA, HEMOGLOBINOPATHY); COMMON VARIANT(S) (EG, HBS, HBC, HBE) - HBB (HEMOGLOBIN, SUBUNIT BETA) (EG, SICKLE CELL ANEMIA, BETA THALASSEMIA, HEMOGLOBINOPATHY); FULL GENE SEQUENCE
|
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)
|
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
|
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
|
81500
|
ONCOLOGY (OVARIAN), BIOCHEMICAL ASSAYS OF TWO PROTEINS (CA-125 AND HE4), UTILIZING SERUM, WITH MENOPAUSAL STATUS, ALGORITHM REPORTED AS A RISK SCORE
|
81503
|
ONCOLOGY (OVARIAN), BIOCHEMICAL ASSAYS OF FIVE PROTEINS (CA-125, APOLIPOPROTEIN A1, BETA-2 MICROGLOBULIN, TRANSFERRIN, AND PRE-ALBUMIN), UTILIZING SERUM, ALGORITHM REPORTED AS A RISK SCORE
|
81504
|
ONCOLOGY (TISSUE OF ORIGIN), MICROARRAY GENE EXPRESSION PROFILING OF > 2000 GENES, UTILIZING FORMALIN-FIXED PARAFFIN-EMBEDDED TISSUE, ALGORITHM REPORTED AS TISSUE SIMILARITY SCORES
|
81507
|
FETAL ANEUPLOIDY (TRISOMY 21, 18, AND 13) DNA SEQUENCE ANALYSIS OF SELECTED REGIONS USING MATERNAL PLASMA, ALGORITHM REPORTED AS A RISK SCORE FOR EACH TRISOMY
|
81521
|
ONCOLOGY (BREAST), MRNA, MICROARRAY GENE EXPRESSION PROFILING OF 70 CONTENT GENES AND 465 HOUSEKEEPING GENES, UTILIZING FRESH FROZEN OR FORMALIN-FIXED PARAFFIN-EMBEDDED TISSUE, ALGORITHM REPORTED AS INDEX RELATED TO RISK OF DISTANT METASTASIS
|
81525
|
ONCOLOGY (COLON), MRNA, GENE EXPRESSION PROFILING BY REAL-TIME RT-PCR OF 12 GENES (7 CONTENT AND 5 HOUSEKEEPING), UTILIZING FORMALIN-FIXED PARAFFIN-EMBEDDED TISSUE, ALGORITHM REPORTED AS A RECURRENCE SCORE
|
81535
|
ONCOLOGY (GYNECOLOGIC), LIVE TUMOR CELL CULTURE AND CHEMOTHERAPEUTIC RESPONSE BY DAPI STAIN AND MORPHOLOGY, PREDICTIVE ALGORITHM REPORTED AS A DRUG RESPONSE SCORE; FIRST SINGLE DRUG OR DRUG COMBINATION
|
81536
|
ONCOLOGY (GYNECOLOGIC), LIVE TUMOR CELL CULTURE AND CHEMOTHERAPEUTIC RESPONSE BY DAPI STAIN AND MORPHOLOGY, PREDICTIVE ALGORITHM REPORTED AS A DRUG RESPONSE SCORE; EACH ADDITIONAL SINGLE DRUG OR DRUG COMBINATION (LIST SEPARATELY IN ADDITION TO CODE FOR PRIMARY PROCEDURE)
|
81538
|
ONCOLOGY (LUNG), MASS SPECTROMETRIC 8-PROTEIN SIGNATURE, INCLUDING AMYLOID A, UTILIZING SERUM, PROGNOSTIC AND PREDICTIVE ALGORITHM REPORTED AS GOOD VERSUS POOR OVERALL SURVIVAL
|
81540
|
ONCOLOGY (TUMOR OF UNKNOWN ORIGIN), MRNA, GENE EXPRESSION PROFILING BY REAL-TIME RT-PCR OF 92 GENES (87 CONTENT AND 5 HOUSEKEEPING) TO CLASSIFY TUMOR INTO MAIN CANCER TYPE AND SUBTYPE, UTILIZING FORMALIN-FIXED PARAFFIN-EMBEDDED TISSUE, ALGORITHM REPORTED AS A PROBABILITY OF A PREDICTED MAIN CANCER TYPE AND SUBTYPE
|
81541
|
ONCOLOGY (PROSTATE), MRNA GENE EXPRESSION PROFILING BY REAL-TIME RT-PCR OF 46 GENES (31 CONTENT AND 15 HOUSEKEEPING), UTILIZING FORMALIN-FIXED PARAFFIN-EMBEDDED TISSUE, ALGORITHM REPORTED AS A DISEASE-SPECIFIC MORTALITY RISK SCORE
|