Test Code CPT Code Synonyms Turn Around Time
12 Centromere FISH 8091 88271, 88275 3-7 days
3-methylcrotonyl-CoA Carboxylase Deficiency Panel 1000 81406 3-MCC deficiency, MCCC1, MCCC2 8 weeks
8 Centromere FISH 8087 88271, 88275 3-7 days
Achromatopsia, CNGA3/CNGB3, Sequencing 1001 81479 Achromatopsia Sequencing, Autosomal Recessive Stargardt Disease Pingelapese Achromatopsia, Pingelapese Blindness; Rod Monochromatism 2 21 days
Acute Myelogenous Leukemia (AML) FISH Panel 7014 88271 x 10, 88275 x 10, 88368 x 1 (FFPE), 88369 x 9 (FFPE) AML FISH 3-10 days - Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Acute Myelogenous Leukemia/ Myelodysplastic Syndrome (AML/MDS) FISH Panel 8022 88271x13, 88275x13, 88368x1 (FFPE), 88369x12 (FFPE) AML/MDS FISH, AML+MDS FISH 5-10 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Adenovirus Qualitative PCR 3040 87798 adenovirus PCR, adenovirus viral load, adenovirus DNA 3-5 days
Adenovirus Quantitative PCR 3040 87799 adenovirus PCR, adenovirus viral load, adenovirus DNA, adenovirus quantitation 1 – 3 days
Agenesis of the Corpus Callosum Panel 1004 81407 Andermann syndrome, L1CAM disorders, ARX, L1CAM, MRPS16, SLC12A6 8 weeks
ALK FISH 8018 88368 ALK kinase marker, Lung cancer marker 5-10 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
ALK Mutation Analysis 4023 81479 ALK Resistance Mutations 10 - 14 days
Amniotic Fluid: Full Chromosome Analysis 6020 88235, 88267, 88280x2, 88285 Chromosome Analysis, Amniotic Fluid Full Study, Amniotic Fluid, AF, Amnio 10-11 Days
Amyotrophic Lateral Sclerosis Panel 1010 81406 ALS, ALS2, ANG, ATXN2, C9ORF72, CHMP2B, DCTN1, FIG4, FUS, NEFH, OPTN , PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA 8 weeks
AneuVysion FISH 7018 88271x5, 88275x5 Prenatal FISH, Aneuploidy Screen, I-FISH ≤3 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Angelman Syndrome (SNRPN/D15S10) FISH 7020 88271, 88275 del(15)(q11.2-q13), Prader-Willi syndrome 3-7 days
Angelman Syndrome, UBE3A Sequencing 1030 81406 UBE3A full gene sequencing, Angelman syndrome sequencing 21 days
APOL1, Sequencing 1050 81479 Apolipoprotein 1 7-14 Days
Arrhythmogenic Right Ventricular Cardiomyopathy 1158 81439 ARVC, Ventricular Arrhythmia, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2, RYR2, TGFB3, TMEM43, TTN 8 weeks
Autosomal Dominant Osteogenesis Imperfecta Panel 2264 81408 COL1A1, COL1A2 , IFITM5, Brittle bone disease, Fragilitas ossium, OI, Vrolik disease 8 weeks
B and T-Cell Receptor (TCR) Gene Rearrangement, PCR 5590 81261, 81264, 81340, 81342 T-Cell Rearrangement, Gene Rearrangement for T-cell lymphoma, T-Cell Clonality, T-Cell Receptor Gamma Clonality, T-Cell Receptor Beta Clonality, Immunoglobulin light chain clonality, Kappa gene rearrangement, Kappa gene clonality, Gene rearrangements for B-cell lymphoma;, B cell gene rearrangement for clonality 5-10 days
B-Acute Lymphoblastic Leukemia (ALL) FISH 7010 88271x9, 88275x9, 88368x1 (FFPE), 88369x8 (FFPE) B-ALL FISH, ALL FISH, Acute Lymphoblasic Leukemia 5 - 10 days Contact lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
B-Cell Gene Rearrangement 4070 81261, 81264 Immunoglobulin (IgH) Gene Rearrangement, Immunoglobulin (IgH) Clonality, Immunoglobulin light chain clonality, Kappa gene rearrangement, Kappa gene clonality, Gene rearrangements for B-cell lymphoma;, B cell gene rearrangement for clonality 5-10 days
BCL2 Breakapart FISH 8040, 8041 FFPE 88271, 88275, 88368 FFPE t(14;18) 3-7 days
BCR-ABL Kinase Domain Mutations/ABL Sequencing (Qualitative) 4020 81170 Imatinib resistance mutation testing, Tyrosine kinase inhibitor resistance mutation testing; , ABL mutation testing for chronic myeloid leukemia, T3151 Mutation 7-10 days
BCR-ABL RNA PCR Quantitation for Leukemia 4080 81206, 81207 BCR-ABL RNA, Philadelphia chromosome fusion transcript levels determination, BCR-ABL PCR, CML monitoring, CML minimal residual disease 7-10 Days
Beta-Propeller Protein-Associated Neurodegeneration (BPAN), WDR45 Sequencing 1080 81479 WDR45 full gene sequencing, BPAN sequencing, NBIA Sequencing 21 days
BK Virus Quantitative PCR 3050 87799 Polyoma virus, BKV DNA, BKV quant 2-5 days
Blood: High Resolution Chromosome Study reflexed to FISH 6054 88230, 88262, 88280, 88289 Chromosomes, Blood, High-resolution 10-12 Days
Bone Marrow Failure Panel 1085 81406 Aplastic anemia, Fanconi anemia, Diamond Blackfan anemia, Shwachman Diamond anemia, Dyskeratosis congentia, Myelodysplastic anemia, BRCA1, BRCA2, BRIP1, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC , FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, MPL, NBN, NHP2, NOP10, PALB2, PRF1, RAD51, RAD51C, RPL11, RPL35A, RPL36 , RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, SBDS, SLX4, SRP72, TERT, THPO, TINF2, USB1, WRAP53, XRCC2 8 weeks
Bone Marrow: Full Chromosome Study reflexed to FISH 6066 88237, 88262, 88280 Chromosomes, Bone Marrow, Full 7– 10 Days
Bordetella pertussis / parapertussis PCR 3060 87798 Pertussis PCR, Whooping Cough 1 - 3 days
BRAF Mutation Analysis 4110 81210 BRAF, BRAF Gene Mutation (exon 15) 7-10 days
BRCA1 and BRCA2 Sequencing and Deletion/Duplication 6000 81162 BRCA1/2 3 weeks
Breakage Analysis: Blood Chromosome Study 6078 88230 , 88249 Fanconi Anemia, Fanconi’s Anemia, FA 7 – 10 Days
Breakage Analysis: Skin Chromosome Study 6080 88233 , 88249 Fanconi Anemia, Fanconi’s Anemia, Somatic mosaicism, FA 28 Days
Brugada Syndrome 1090 81407 CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4 8 weeks
BTK, Exon 14, Sequencing 4125 81479, *****New CPT code as of 01/01/2019 *****, 81233 BTK, BTK exon 14, ibrutinib resistance mutation 7-10 days
CALRETICULIN (CALR) Gene Mutations in Myeloproliferative Neoplasms 4140 81219 Myeloproliferative Disorder 7-10 days
Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency 1160 81479 Carnitine Palmitoyltransferase 1A 7 – 10 Days
Catecholaminergic Polymorphic Ventricular Tachycardia Panel 1167 81408 Ventricular Tachycardia, CPVT, ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN 8 weeks
CEBPA Mutation Testing in Acute Myeloid Leukemia (AML) 4150 81218 CCAAT/enhancer binding protein-alpha mutation testing 7 – 10 Days
CEP X and CEP Y FISH 8080 88271, 88275, 88368 (FFPE) X/Y Chimerism 5-10 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Charcot-Marie-Tooth Syndrome Panel 1035 81448 Neuromuscular disorders, Peripheral neuropathy, Hereditary motor/sensory neuropathy, AARS, BSCL2, DCTN1, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, HSPB1, HSPB8 , IGHMBP2, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SPTLC1, TRPV4, YARS 8 weeks
Childhood Epilepsy Panel 1290 81407 Infantile Epilepsy, Epilepsy/Seizures, Juvenile myoclonic epilepsy, ADSL, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A , KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, SYN1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2 8 weeks
Cholestasis Panel 1275 81407 Alagille syndrome, Congenital Bile Acid Synthesis Defect, Familial Intrahepatic Cholestasis, Peroxisome Biogenesis Disorder, Zellweger Syndrome 8 weeks
Chorionic Villus Sampling: Full Chromosome Analysis 6100 88235, 88267, 88280x2, 88285 Chorionic Villus Study, CVS Chromosomal Analysis, Chromosome Analysis, Chorionic Villi, Chorionic Villus Sampling Chromosomes 10 – 12 Days
Chromosomal Microarray - Postnatal 6500 81229 Array comparative genomic hybridization, aCGH, Microarray, Competitive genomic hybridization, Chromosome microarray, Postnatal 10-18 days (Note: in rare cases, turnaround times may be longer because of confirmation studies – the referring clinician will be kept abreast of the situation.)
Chromosomal Microarray - Prenatal Diagnosis 6510 81229 Array comparative genomic hybridization, aCGH, Microarray, Competitive genomic hybridization, Chromosome microarray, Prenatal 7-10 days - See Additional Information
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL) FISH Panel 7100 88271x6, 88275x6, 88368x1 (FFPE), 88369x5 (FFPE) CLL/SLL FISH, CLL FISH, SLL FISH 5 – 10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Ciliopathies Panel 1277 81408 Nephronophthisis, Orofaciodigital syndrome type 1, Senior-Loken syndrome, Joubert Syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, Heterotaxias, Primary Ciliary Dysfunction, ACVR2B, AHI1, AIPL1, ARL13B, ARL6, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2orf71, C5orf42 , CC2D2A, CCDC28B, CCDC39, CCDC40, CDH23, CEP290, CEP41, CFTR, CITED2, CLRN1, CRB1, CRELD1, CRX, DFNB31, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, EVC, EVC2, FOXH1, GATA4, GDF1, GLIS2, GPR98, GUCY2D, HYLS1, IFT43, IFT80 , IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIF7, LCA5, LEFTY2, LRAT, MKKS, MKS1, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH4A, RSPH9 , SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SHROOM3, SMAD2, SPATA7, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR35, XPNPEP3, ZIC3 8 weeks
cKIT-GIST (may include exons 9,11,13,17) Mutation Analysis, reflexed to PDGFRA 4199 81272 KIT (cKIT) for Gastrointestinal stromal tumor (GIST) (exons 9, 11, 13, 17) reflexed to PDGFRA 10 - 14 days
CMV Qualitative PCR 3092 87496 CMV by PCR, CMV qual 1 - 3 days
CMV Quantitative PCR 3090 87497 CMV by PCR, CMV quant 1 - 3 days
Comprehensive Arrhythmias Panel 1153 81413 Syncopal Episodes, Torsades de pointes tachyarrythmia, Atrial Fibrillation, Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT, Brugada syndrome, Long QT, Short QT, AKAP9, ANK2, CACNA1C, CACNB2, CALM1, CASQ2 , CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TRDN, TRPM4 8 weeks
Comprehensive Brain Malformations Panel 1095 81408 ACTB, ACTG1, AHI1, ARFGEF2, ARL13B, ARX, ASPM, ATR, ATRX, C5ORF42, CASK, CC2D2A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP152, CEP290, CEP41, COL4A1, CUL4B, DCX, DHCR7, DISP1, DLL1, EMX2, EOMES, EXOSC3 , EZH2, FGF8, FKRP, FKTN, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, GPR56, HESX1, IER3IP1, KIAA1279, KIF7, L1CAM, LAMC3, LARGE, MCPH1, MECP2, MED12, MKS1, MRPS16, MYCN, NFIX , NIPBL, NODAL, NPHP1, NSD1, OFD1, OPHN1, OTX2, PAFAH1B1, PCNT, PHF6, PIK3CA, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTEN, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RELN, RPGRIP1L, SHH, SIX3, SLC25A19, SLC9A6 , SOX2, SRPX2, STIL, TCF4, TCTN1, TCTN2, TGIF1, TMEM138, TMEM216, TMEM237, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, UBE3A, UPF3B, VLDLR, VRK1, WDR62, ZEB2, ZIC2 8 weeks
Comprehensive Cardiomyopathy Panel 1151 81439 Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, ARVC, LVNC, CPVT, Restrictive Cardiomyopathy, Noonan, Familial Aneurysm and Aortopathy, Fabry, Long / Short QT, Brugada Syndrome, ABCC9, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, CBL, CBS, COL5A1, COL5A2, COX15, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, FXN, GAA, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K2, MED12, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NRAS, OBSCN, PDLIM3, PKP2, PLN, PLOD1, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SCO2, SGCD, SHOC2, SKI, SLC2A10, SMAD3, SNTA1, SOS1, SPRED1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL Eight Weeks
Comprehensive Neuromuscular Panel 1575 81408 Neuromuscular disorders, Congenital muscular dystrophy, Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy, ACTA1, AMPD1, ANO5, BAG3, BIN1, BSCL2, CAPN3, CAV3, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL6A1, COL6A2, COL6A3, COLQ, CRYAB, DAG1, DES , DMD, DNM2, DOK7, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLE1, GNE, IGHMBP2, ISPD, ITGA7, LAMA2, LARGE, LDB3, LMNA, MTM1, MTMR14, MUSK, MYH2, MYH7, MYOT, NEB, PABPN1, PLEC, PLEKHG5 , PMM2, POMGNT1, POMT1, POMT2, PTRF, PYGM, RAPSN, RYR1, RYR2, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SYNE1, SYNE2, TCAP, TNNI2, TNNT1, TPM2, TPM3, TRIM32, TTN, VCP, VRK1 8 weeks
Congenital Disorders on Glycosylation Panel 1475 81406 CDG, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8 , DDOST, DOLK, DPAGT1, DPM1, DPM3, GNE, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1, SRD5A3, TMEM165, TUSC3 8 weeks
Congenital Muscular Dystrophy Panel 1285 81408 Neuromuscular disorders, Dystroglycanopathies, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKRP, FKTN , ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMT1, POMT2, RYR1, SEPN1, TCAP 8 weeks
Congenital Muscular Myopathy Panel 1293 81408 Neuromuscular disorders, Nemaline myopathy, Central core disease , Myotubular myopathy, ACTA1, BIN1, CFL2, CNTN1, DNM2 , KBTBD13, MTM1, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3
Connective Tissue Panel 1165 81408 Marfan Syndrome, Loeys-Dietz Syndrome (LDS), Ehlers-Danlos Syndrome, Familial Aneurysm and Aortopathy, Shprintzen-Goldberg Syndrome, ACTA2, ADAMTS2, B3GALT6, B4GALT7, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1 , FBN2, FKBP14, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 8 weeks
Connexin 26 (GJB2) Sequencing and Connexin 30 (GJB6) DeletionGJB2/DFNB1) 1150 81252, 81254 Connexin, Non-Syndromic Hereditary Hearing Loss, GJB2, DFNB1, GJB6- D13S1830 14-21 Days
Craniosynostosis Panel 1245 81408 Craniosynostosis, Achondroplasia, Antley-Bixler syndrome, Apert syndrome, Baller-Gerold syndrome, Craniofrontonasal dysplasia, Craniosynostosis mental retardation syndrome of Lin and Gettig, Crouzon’s Syndrome, Beare-Stevenson cutis gyrate syndrome, Hunter-McAlpine craniosynostosis, Jackson-Weiss syndrome, Muenke syndrome, Opitz trigonocephaly syndrome, Pfeiffer syndrome, Pierre Robin Syndrome, POR (Cytochrome P450 Oxidoreductase) deficiency with Antley-Bixler phenotype, Saethre-Chotzen syndrome, Shprintzen-Goldberg craniosynostosis , ALPL, ALX4, ASXL1, CDC45, CYP26B1, EFNB1, ERF, FBN1, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MASP1, MSX2, P4HB, POR, RAB23, RECQL4, SEC24D, SKI, SLC25A24, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, Z1C1 8 weeks
Cri-du-Chat (5p-) FISH 8105 88273, 88275 Cat cry syndrome, 5p-, del(5)(p15.2) 5-12 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Custom Targeted Sequencing 1230 81479(Misc Gene), 81202(APC), 81215(BRCA1), 81217(BRCA2), 81221(CFTR), 81253(GJB2), 81303(MECP2), 81293(MLH1), 81296(MSH2), 81299(MSH6), 81326(PMP22), 81322(PTEN), 81403(SMN1) Sequencing for Known Mutations, Familial Mutation, Familial Variant 14 - 21 Days
Cystic Fibrosis, CFTR, Deletion/Duplication 1226 81222 CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane, conductance regulator 14 – 21 Days
Cystic Fibrosis, CFTR, Screening 1220 81220 CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane conductance regulator, CF carrier screening 7-10 days
Cystic Fibrosis, CFTR, Sequencing 1222 81223 CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane conductance regulator, CF carrier screening 14 – 21 Days
Cystic Fibrosis, CFTR, Sequencing and Deletion/Duplication 1224 81222, 81223 CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane conductance regulator, CF carrier screening 14 – 21 Days
Dementia Panel 1250 81403, 81404, 81405x2, 81406x8, 81479x9 Alzheimer, Early onset Alzheimer, ALS2, ANG, APOE, APP, C9ORF72, CHMP2B, CSF1R, DCTN1, FIG4 , FUS, GRN, MAPT, OPTN, PRNP, PSEN1, PSEN2, SETX, SORL1, TARDBP, TREM2, VCP 8 weeks
Diffuse Large B-Cell Lymphoma (DLBCL) FISH Panel 7450 88271x4, 88275x4, 88368x1 (FFPE), 88369x3 (FFPE) DLBCL FISH, DLBL FISH, B-Cell Lymphoma 5 – 10 days Contact Lab at 855-KDL-1LAB (535-1522). Time varies depending on number of tests performed per specimen
DiGeorge Syndrome (TUPLE1) FISH 7140 88271, 88273, 88274 Velocardiofacial syndrome, VCFS, DGS, Deletion 22q11.2 syndrome 5-12 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Dilated Cardiomyopathy Panel 1260 81439 ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, RAF1, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TPM1, TTN, TXNRD2, VCL Eight Weeks
DNA Banking Services 1300 83890 DNA Storage, DNA Banking, DNA Storage for Future Testing Not Applicable
Duchenne/Becker Muscular Dystrophy, DMD/BMD, Deletion/Duplication 1280 81161 Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, DMD, BMD, Dystrophin 7 – 14 Days
Dyslipidemia Panel 1287 81479X2 HMGCR, NPC1L1 8 weeks
Dystonia Panel 1295 81321, 81404x5, 81405x8, 81406x11, 81407, 81408, 81479x51, ****************************New CPT Codes as of 01/01/2019****************************, 81185, 81321, 81404x5, 81405x8, 81406x11, 81408, 81479x51 Dystonic features, ADAR, AFG3L2, AP1S2, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, C19orf12, CACNA1A, CHMP2B, CP, CYP27A1, DCAF17, DDC, DLAT, DRD2, DRD5, EARS2 , ERCC6, FA2H, FASTKD2, FBXO7, FOXG1, FOXRED1, GAMT, GCDH, GCH1, HPRT1, KCNQ2, L2HGDH, MAT1A, MCOLN1, MMADHC, MPV17, MR1, NPC2, PANK2, PARK2, PDHX, PINK1, PLA2G6, PLP1, PNKD, PRRT2, PSEN1, PTEN, PTS , QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHAF1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC46A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREM2, TREX1, VPS13A, WDR45 8 weeks
EGFR FISH 8180 88271, 88275, 88368 (FFPE) EGFR FISH 5-10 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
EGFR Mutation Analysis 4360 81235, 81479 EGFR, EGFR Gene Mutation (Exons 18, 19, 20 & 21) 10-14 days
Engraftment (Chimerism) Analysis for Allogeneic Hematopoietic Stem Cell 4380 (Donor Pre-Transplant), 4382 (Recipient Pre-Transplant), 4388 (Post Transplant Chimerism), 4390 (Sorted Cell Chimerism) 81267 (for 4388), 81260 (for 4390), 81265 (added first time 4388 or 4390 is performed) Pretransplant DNA storage, Post-transplant DNA for engraftment study, DNA from sorted cells for chimerism study 7-10 days
Epilepsy/Seizures panel 1291 81302, 81404x8, 81405x8, 81406x10, 81407x5, 81408, 81479x66, ***************************New Codes as of 01/01/2019**************************, 81185, 81189, 81302, 81404x7, 81405x8, 81406x10, 81407x4, 81408, 81479x66 Infantile Epilepsy, Childhood Epilepsy, ABAT, ADSL, ALDH5A1, ALDH7A1, AMT, ARHGEF9, ARX, ASPM, ATP1A2, BTD, CACNA1A, CACNB4, CASK, CASR, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, DCX, DNAJC5, EFHC1, EPM2A , FLNA, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GCH1, GLDC, GOSR2, GPR56, GPR98, GRIN2A, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCTD7, LGI1, LIAS, MAGI2, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MMACHC, MTHFR, NHLRC1, NRXN1, OPHN1, PAFAH1B1, PCBD1, PHGDH, PLCB1, PNKP , PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSPH, PTS, QDPR, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, SYN1, TBC1D24, TCF4, TPP1, TSC1, TSC2, TSEN54, UBE3A, WDR45, WDR62, ZEB2 8 weeks
Epstein-Barr Virus Quantitative PCR 3180 87799 EBV, EBV PCR/Quant, Infectious mononucleosis, Post transplant lymphoproliferative disorder (PTLD) 1-3 days
Erythrocytosis Panel 4375 81270, 81403 JAK2 V617F, JAK2 Exon 12 7-14 days
Exome Deletion/Duplication - Proband 2875 81228 Medical Exome Array: Deletion/Duplication Analysis 8 weeks
Exome Sequencing - Proband 2800 81415 Clinical Exome, Medical Exome, Targeted Exome, Exome Sequencing Approximately 20 weeks
Exome Sequencing - Trio 2890 81415, 81416x2 Whole Exome, Clinical exome, Medical exome, Targeted exome, Exome sequencing and trio analysis Approximately 20 weeks
Exome Sequencing and Deletion/Duplication - Proband 2825 81415, 81228 Next Generation Sequencing plus array Approximately 20 weeks
Exome Sequencing and Deletion/Duplication - Trio 2850 81228, 81415, 81416x2 Whole Exome, Clinical Exome, Medical Exome, Targeted Exome, Exome sequencing and trio analysis Approximately 20 weeks
Exon-Centric Deletion/Duplication Anaylsis 1340 81228 Exon-centric microarray, Cardiomyopathy, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Noonan Syndrome, Hearing Loss, Autism, Inherited Cancer 8 weeks
Exon-Centric Microarray to Accompany NGS Panels 1340 81228 Exon-centric microarray, Cardiomyopathy, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Noonan Syndrome, Hearing Loss, Autism, Inherited Cancer 8 weeks
Fabry Disease 1390 81405 GLA 8 weeks
Factor V (Leiden) Mutation (R506Q) 1420 81241 Factor V Leiden, Hereditary Resistance Activated Protein C Resistance, Resistance to Activated Protein C, Activated protein C resistance, APC resistance, Factor V R506Q, FCV 7 – 10 Days
Familial Adenomatous Polyposis (FAP), APC Deletion/Duplication 1444 81203 APC deletion/duplication 14 - 21 days
Familial Adenomatous Polyposis (FAP), APC Sequencing 1442 81201 APC full gene sequencing, Familial Adenomatous Polyposis (FAP) sequencing 14 - 21 days
Familial Adenomatous Polyposis (FAP), APC Sequencing & Deletion/Duplication 1440 81201, 81203 APC full gene sequencing, Familial Adenomatous Polyposis (FAP) sequencing, APC deletion/duplication 14 - 21 days
Familial Aneurysm and Aortopathy 1445 81405x2, 81406, 81407, 81408x3, 81479x24, *************************************New codes as of 01/.01/.2019***************, 81405x3, 81406, 81407, 81408x3, 81479x23 Thoracic Aortic Aneurysms and Aortic Dissections (TAAD), Marfan Syndrome, Loeys-Dietz Syndrome (LDS), Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Connective Tissue Disorders, ACTA2, ADAMTS2, B3GALT6, B4GALT7, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1 , FBN2, FKBP14, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 8 weeks
Fanconi Anemia FISH Panel 7210 88271x9, 88275x9, 88368x1 (FFPE), 88369x8 (FFPE) Fanconi FISH, FA-FISH 5-10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Fanconi Anemia Panel 1460 81479x17 Fanconi Anemia sequencing panel, Fanconi Anemia NGS, FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, BLM, RAD51 Eight Weeks
Fanconi Anemia, group A, FANCA, Deletion/Duplication Analysis 1451 81479 FANCA MLPA, FA Complementation Group A, Fanconi A, Fanconi Group A, FANC A Deletion, Duplication 14 – 21 Days
Fanconi Anemia, group A, FANCA, Sequencing 1448 81479 FA Complementation Group A, Fanconi Sequencing 14-21 days
Fanconi Anemia, group A, FANCA, Sequencing and Deletion/Duplication 1450 81479x2 FANCA Comprehensive Analysis, FA Complementation Group A, Fanconi Anemia, Fanconi Group A, Fanconi Sequencing, FANCA 14 – 21 Days
Fanconi Anemia, group C, FANCC, Sequencing 1452 81479 FA Complementation Group C, Fanconi Anemia, Fanconi Group C, Fanconi Sequencing, FANCC 14 – 21 Days
Fanconi Anemia, group E, FANCE, Sequencing 1454 81479 FA Complementation Group E, Fanconi Anemia, Fanconi Group E, Fanconi Sequencing, FANCE 14 – 21 Days
Fanconi Anemia, group F, FANCF, Sequencing 1456 81479 FA Complementation Group F, Fanconi Anemia, Fanconi Group F, Fanconi Sequencing, FANCF 14 – 21 Days
Fanconi Anemia, group G, FANCG, Sequencing 1458 81479 FA Complementation Group G, Fanconi Anemia, Fanconi Group G, Fanconi Sequencing, FANCG 14 – 21 Days
Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN), FA2H, Sequencing 1400 81479 FAHN, FA2H, NBIA 14 – 21 Days
Fatty Acid Oxidation Deficiency Panel 1405 81405x3, 81406x5, 81479x14 ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH , GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, SLC22A5, SLC25A20, TAZ 8 weeks
FGFR1 FISH 8218 88271, 88275, 88368 (FFPE) FGFR1 FISH, fibroblast growth factor receptor 1 FISH 3 - 7 days
FISH Library - Constitutional 7300 88271, 88275 AneuVysion (chromosomes 13, 18, 21, X and Y), Angelman Syndrome (SNRPN/D15S10) (15q11-13), CEP X and CEP Y , Cri-du-chat (5p-) Syndrome (5p15.2), DiGeorge Syndrome (DGS) (TUPLE1) (22q11.2) , Kallman Syndrome (KAL) (Xp22.3) , Miller-Dieker Syndrome (LIS1) (17p13.3) , Prader-Willi Syndrome (SNRPN/D15S10) (15q11-13), SHOX-related haploinsufficiency disorders (SHOX) (Xp22.33), Smith-Magenis Syndrome (SMS) (17p11.2) , SNRPN Dup(15) in autism, SRY-related disorders of sex development (SRY) (Yp11.3) , Steroid Sulfatase (STS) (Xp22.3), Velocardiofacial Syndrome (VCFS) (TUPLE1) (22q11.2) , Williams Syndrome (ELN) (7q11.23) , Wolf-Hirshhorn (4p-) Syndrome (WHS) (4p16.3) 3-7 days* *TAT may be extended if part of a chromosome study
FISH Library - Oncology 7400 88368 B-ALL, T-ALL, AML, AML+MDS, CLL, DLBCL, FA, Glioma, HES/CMML/MPD, MDS, MM, MZL, NSCLC, 1p36/1q25, 19p13/19q13, 4/10/17 ALL, 5p15/15q22 MM, 3 centromere, 8 centromere, 12 centromere, ABL1 break-apart, ABL2 break-apart, AFF1 break-apart, ALK break-apart, ATM , BCL2 break-apart, BCL3 break-apart, BCL6 break-apart, BCR/ABL+/- ASS t(9;22), BIRC3(API2)/MALT1 t(11;18) , BRAF , CBFB/MYH11 inv(16) , CCND1 break-apart, CDKN2A (p16), CHIC2/FIPIL1/PDGFRA, CHOP (DDIT3) break-apart, CKS1B/CDKN2C MM, C-MET, C-MYC, COL1A1/PDGFB (DFSP) t(17;22), CRLF2 break-apart, D13S319/13q34 , D20S108 , D7S486 , DEK/NUP214 t(6;9) , E2A break-apart, E2A/PBX1 t(1;19) , EGFR , EGR1 , ETV6 (TEL) break-apart, ETV6/RUNX1 (TEL/AML) t(12;21), EVI1 break-apart, EWSR1 break-apart, FGFR1 , FGFR1 break-apart, FOXO1 (FKHR) break-apart, FUS break-apart, HER-2/neu (ERBB2), IGH break-apart, IGH/BCL2 t(14;18), IGH/CCND1 t(11;14), IGH/CCND3 t(6;14), IGH/FGFR3 t(4;14), IGH/MAF t(14;16), IGH/MAFB t(14;20), IGH/MALT1 t(14;18), IGH/MYC t(8;14), IGK break-apart, IGL break-apart, IL3 break-apart, JAK2 break-apart, MALT1 break-apart, MDM2, MECOM/GATA, MLL (KMT2A) break-apart, MLL/MLLT1 t(11;19), MLLT3/MLL t(9;11), MYB/6q21, MYC break-apart, N-MYC , NUP98 break-apart, PDGFRB break-apart, PML/RARA t(15;17), PTEN , RARA break-apart, RB1/D13S319/LAMP1, RET break-apart, ROS1 break-apart, RUNX1 break-apart, RUNX1T1/RUNX1 (ETO/AML) t(8;21), SS18 (SYT) break-apart, TCL1 break-apart, TP53 (p53), TRAD (TCR) break-apart , X&Y post-transplant 3-7 days* *TAT may be extended if part of a chromosome study
FLT3 Mutation Analysis 4460 81245, 81246 FMS-like tyrosine kinase 3 internal tandem duplication, FLT3 D835, FLT3 I836, FLT3 ITD 7-10 days
FMR1-Related Primary Ovarian Insufficiency (POI) 1482 81423, 81244 (if expansion is found) FMR1-Related Disorders , FMR1 7-10 days
Fragile X Syndrome 1480 81243, 81244 (if expansion is found) FMR1-Related Disorders , Frax A Mental Retardation 7-10 days. If expansion found, add 14 days to turn around time.
Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) 1481 81243, 81244 (if expansion is found) FMR1-Related Disorders , FXTAS Fragile X Tremor Ataxia Syndrome 7-10 days. If expansion found, add 14 days to turn around time.
GeneTrails Comprehensive Solid Tumor Panel 5441 81455 Solid Tumor Panel Version 3, Fusion gene, Gene fusion, ALK, ROS1, NTRK, ACVR1, AKT1, AKT2, AKT3, ALK, AMER1, APC, APLNR, AR, ARAF, ARID1A, ARID2, ASF1A, ATM, ATR, ATRX, AURKA, AXIN1, B2M, BAP1, BARD1, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BUB1B, EMSY, CASP8CCND1, CCND2, CCND3, CCNE1, CD274 (PD-L1), CDH1, CDK12, CDK4, CDK6, CDKN1B, CDKN2A, CHD4, CHEK1, CHEK2, CIC, COL2A1, CTNNB1, DDR2, DDX11, DDX3X, DICER1, EGFR, EGLN1, EGLN2, EIF1AX, EPAS1, ERBB2, ERBB3, ERBB4, ERCC2, ERCC3, ERCC5, ESR1, FAM175A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCM, FBXW7, FGF19, FGF3, FGF4, FGFR1, FGFR2, FGFR3, FGFR4, FH, FUBP1, GATA3, GNA11, GNAQ, GNAS, H3F3A, HIST1H3B, HIST1H3C, HLA-A, HLA-B, HLA-C, HOXB13, HRAS, IDH1, IDH2, IDO1, IDO2, IFNGR1, IFNGR2, INPP4B, IRF1, JAK1, JAK2, KDR, KEAP1, KIF1B, KIT, KLF4, KRAS, LZTR1, MAP2K1 (MEK1), MAP2K2 (MEK2), MAP2K4, MAP3K1, MAPK1, MAX, MC1R, MDC1, MDH2, MDM2, MDM4, MEN1, MET, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MTAP, MTOR, MUTYH, MYC, MYCN, MYOD1, NBN, NDUFAB1, NF1, NF2, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PBRM1, PDCD1LG2, PDGFRA, PIK3CA, PIK3CB, PIK3R1, PLAG1, PLCG1, PMS1, PMS2, POLE, PPM1D, PPP2R1A, PPP6C, PRKAR1A, PRKCA, PSMB5, PTCH1, PTEN, PTPN11, PTPRB, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RASA1, RB1, RECQL, RET, REV7, RHEB, RICTOR, RINT1, RIT1, RNF139, RNF43, ROS1, RPTOR, RRAS, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SETD2, SF3B1, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMO, SOCS1, SPEN, SPOP, STAG2, STAT3, STK11, SUFU, TAP1, TAP2, TAPBP, TCEB1, TERT, TMEM127, TP53, TP53BP1, TRAF7, TSC1, TSC2, VHL, XRCC1, YAP1, YES1 10-17 Calendar days
GeneTrails Hematologic Malignancies 220 Gene Panel 4600 81455 Heme Malignancies Panel , Leukemia Panel, Next Gen Sequencing Comprehensive Heme Malignancies Panel , Next Gen Sequencing Leukemia Panel , ABL1, AKT1, ANKRD26, ARID1A, ARID1B, ASXL1, ASXL2, ATG2B, ATM, ATRX, BCL2, BCL6, BCOR, BCORL1, BIRC3, BIRC6, BLM, BRAF, BRCA1, BRCA2, BRCC3, BRD4, BTK, CALR, CARD11, CASP10, CBL, CBLB, CBLC, CCND1, CCND3, CCR4, CD27, CD79A, CD79B, CDH11, CDKN2A, CEBPA, CHD2, CHEK2, CREBBP, CRLF2, CSF1R, CSF3R, CTCF, CTLA4, CUX1, CXCR4, DAXX, DDX41, DDX54, DHX15, DHX29, DIS3, DNAH5, DNAH9, DNAJC21, DNM2, DNMT1, DNMT3A, DOCK8, DTX1, EED, EFTUD1, EGFR, ELANE, EP300, ERBB4, ETNK1, ETV6, EZH2, FAM47A, FAM5C, FAS, FAT1, FAT4, FBXO11, FBXW7, FLT3, FOXO1, FYN, GATA1, GATA2, GATA3, GNA13, GNAS, GNB1, GSKIP, HAX1, HIST1H1E, HNRNPK, HRAS, HVCN1, ID3, IDH1, IDH2, IGLL5, IKZF1, IKZF3, IL7R, IRF4, JAK1, JAK2, JAK3, KDM6A, KIT, KLF2, KLHL6, KMT2A, KMT2C, KMT2D, KRAS, LLGL2, LRRC4, LUC7L2, MAGT1, MAML1, MAP2K1, MECOM, MED12, MEF2B, MGA, MLH1, MPL, MSH2, MSH6, MYC, MYD88, NAF1, NBN, NF1, NFKBIE, NOTCH1, NOTCH2, NPAT, NPM1, NRAS, NT5C2, NXF1, PAX5, PCLO, PDGFRA, PHF6, PIGA, PIK3CD, PIM1, PLCG1, PLCG2, PMS2, POT1, PPM1D, PRDM1, PRKCB, PRPF40B, PRPF8, PRPS1, PSMB5, PTCH1, PTEN, PTPN11, RAD21, RB1, RBBP6, RELN, RHOA, RIT1, RPS15, RTEL1, RUNX1, RYR1, RYR2, SAMD9, SAMD9L, SAMHD1, SBDS, SETBP1, SETD2, SETDB1, SF1, SF3A1, SF3B1, SH2B3, SMARCA2, SMARCB1, SMC1A, SMC3, SOCS1, SPEN, SPI1, SRP72, SRSF2, STAG2, STAT3, STAT5B, STXBP2, SUZ12, SYK, SYNE1, TBL1XR1, TCF3, TCF4, TERC, TERT, TET2, TNFAIP3, TNFRSF14, TP53, TRAF3, U2AF1, U2AF2, UBR5, USH2A, VAV1, WAS, WHSC1, WT1, XPO1, ZBTB7A, ZRSR2 14 - 18 days
GeneTrails Solid Tumor Fusion Gene Panel 4480 81445 Fusion gene, Gene fusion, ALK, FGFR2, FGFR3, NTRK, NUTM1, ROS1 10-14 calendar days
GeneTrails Solid Tumor Panel with Reflex to Solid Tumor Fusion Gene Panel 5440 81455 Solid Tumor Panel Version 3, ACVR1, AKT1, AKT2, AKT3, ALK, AMER1, APC, APLNR, AR, ARAF, ARID1A, ARID2, ASF1A, ATM, ATR, ATRX, AURKA, AXIN1, B2M, BAP1, BARD1, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BUB1B, EMSY, CASP8CCND1, CCND2, CCND3, CCNE1, CD274 (PD-L1), CDH1, CDK12, CDK4, CDK6, CDKN1B, CDKN2A, CHD4, CHEK1, CHEK2, CIC, COL2A1, CTNNB1, DDR2, DDX11, DDX3X, DICER1, EGFR, EGLN1, EGLN2, EIF1AX, EPAS1, ERBB2, ERBB3, ERBB4, ERCC2, ERCC3, ERCC5, ESR1, FAM175A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCM, FBXW7, FGF19, FGF3, FGF4, FGFR1, FGFR2, FGFR3, FGFR4, FH, FUBP1, GATA3, GNA11, GNAQ, GNAS, H3F3A, HIST1H3B, HIST1H3C, HLA-A, HLA-B, HLA-C, HOXB13, HRAS, IDH1, IDH2, IDO1, IDO2, IFNGR1, IFNGR2, INPP4B, IRF1, JAK1, JAK2, KDR, KEAP1, KIF1B, KIT, KLF4, KRAS, LZTR1, MAP2K1 (MEK1), MAP2K2 (MEK2), MAP2K4, MAP3K1, MAPK1, MAX, MC1R, MDC1, MDH2, MDM2, MDM4, MEN1, MET, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MTAP, MTOR, MUTYH, MYC, MYCN, MYOD1, NBN, NDUFAB1, NF1, NF2, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PBRM1, PDCD1LG2, PDGFRA, PIK3CA, PIK3CB, PIK3R1, PLAG1, PLCG1, PMS1, PMS2, POLE, PPM1D, PPP2R1A, PPP6C, PRKAR1A, PRKCA, PSMB5, PTCH1, PTEN, PTPN11, PTPRB, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RASA1, RB1, RECQL, RET, REV7, RHEB, RICTOR, RINT1, RIT1, RNF139, RNF43, ROS1, RPTOR, RRAS, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SETD2, SF3B1, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMO, SOCS1, SPEN, SPOP, STAG2, STAT3, STK11, SUFU, TAP1, TAP2, TAPBP, TCEB1, TERT, TMEM127, TP53, TP53BP1, TRAF7, TSC1, TSC2, VHL, XRCC1, YAP1, YES1 10-14 calendar days
Glioma FISH Panel 7270 88368x1 (FFPE Only), 88369x3 (FFPE Only) Glioma FISH 5–10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Gluconeogenesis Disorders Panel 1465 81406, 81479 Intrahepatic cholestasis, Citrin deficiency, Alagille syndrome, ALDOB, FBP1, GYS2, PC 8 weeks
GNAQ and GNA11 Mutation Analysis 4525 81479, 81403 GNAQ, GNA11, melanoma, choroid, uveal 10 - 14 days
H3F3A Mutation Analysis 4810 81403 Histone H3.3 5 Days - Contact Lab at 855-KDL-1LAb (535-1522)
Hearing Loss Panel 1495 81430 Hearing loss, Deafness, Hearing impairment, Deaf, ABHD12, ABHD5, ACTG1, ANKH, ARSB, ATP6V1B1, BSND, BTD, CACNA1D, CCDC50, CDH23, CDKN1C, CEACAM16, CHD7, CIB2, CISD2, CLDN14, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, CRYM, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HARS2, HGF, HSD17B4, ILDR1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MASP1, MIR96, MITF, MSRB3, MTRNR1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OTOA, OTOF, PAX3, PCDH15, PDZD7, PITX2, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RPS6KA3, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SMPX, SNAI2, SOX10, STRC, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1 Eight Weeks
Heme/Onc Blood: Full Chromosome Study reflexed to FISH 6300 88237, 88262, 88280 Chromosomes, Cancer Blood, Hematological Malignancies, Heme/onc blood, Heme-onc blood 7 – 10 Days
Hemochromatosis (HFE) C282Y, with Reflex to H63D if Heterozygous 1600, 1602 (Reflex) 81256 HFE, HLA-H Mutation, PCR, Iron, Tissue, DNA Test (Hemochromatosis), Hemochromatosis (HFE), C282Y, H63D 7 – 10 Days
Hepatitis C Genotyping 3302 87902 Hepatitis C genotype , HCV genotype 7-10 days
HER-2 (ERBB2) FISH 8300 88377 HER2, HER-2/neu, ERBB2 (17q12-q12) 3-7 days
Herpes Simplex Virus 1 & 2 PCR 3330 87529x2 Qualitative HSV with subtyping, HSV-1, HSV-2 0-3 Days
Heterotaxia Panel 1610 81479x15 Heterotaxy Syndrome, ACVR2B, CITED2, CRELD1, DNAH11, DNAH5, DNAI1, FOXH1, GATA4, GDF1, LEFTY2, NKX2-5, NODAL, SHROOM3, SMAD2, ZIC3 8 weeks
High HDL Panel 1615 81479x3 Hypoalphalipoproteinemia, Cholesteryl ester Transferase Deficiency, APOA1, CETP, SCRB1 8 weeks
Holoprosencephaly Panel 1625 81479x13 HPE, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1 , GLI2, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2 8 weeks
Huntington Disease 1620 81401, *****New Code as of 1/1/2019*****, 81274 HD, Huntington’s Chorea, HTT 14-21 Days
Hypercholesterolemia Panel 1499 81406x2, 81479x2 Lipid Disorders, Familial Hypercholesterolemia, FH, Heterozygous FH (HeFH), Homozygous FH (HoFH), APOB, LDLR, LDLRAP1, PCSK9 8 weeks
Hypereosinophilic Syndrome (HES) / Chronic Myelomonocytic Leukemia (CMML) / Myeloproliferative Neoplasms (MPN) FISH 7190 88271x8, 88275x8, 88368x1 (FFPE), 88369x7 (FFPE) HES FISH, Hypereosinophilia , Chronic eosinophilic leukemia, Chronic Myelomonocytic leukemia, CMML FISH, Myeloproliferative Neoplasm, MPN FISH, Myeloproliferative Disorder, MPD FISH, Polycythemia Vera, PV FISH, Essential Thrombocythemia, ET FISH, Myelofibrosis, MF FISH 5 – 10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Hypertriglyceridemias Panel 1645 81479x5 Trigliceride, APOA5, APOC2, GPIHBP1, LMF1, LPL 8 weeks
Hypertrophic Cardiomyopathy Panel 1500 81403, 81404x3, 81405x11, 81406x5, 81407x3, 81479x10, ***********************************New codes as of 01/01/2019***********************, 81286, 81403, 81404x2, 81405x11, 81406x5, 81407x3, 81479x10 ACTC1, ACTN2, ANKRD1, CAV3, COX15, CSRP3, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL 8 weeks
Hypolipidemia and Hypocholesterolemia Panel 1655 81406, 81479x3 ANGPTL3, APOB, MTTP, PCSK9 8 weeks
IDH1 and IDH2 Mutation Analysis 4650 81403 Glioma , AML , Isocitrate dehydrogenase isoforms 7 - 10 days
IGH/BCL2 t(14;18) FISH 7360, 7361 FFPE 88271, 88275, 88368 FFPE Follicular Lymphoma 3-7 days
IGH/CCND1 t(11;14) FISH 7090, 7091 FFPE 88271, 88275, 88368 FFPE Mantle Cell Lymphoma 3-7 days
Infantile Epilepsy Panel 1675 81302, 81404x6, 81405x4, 81406x9, 81407x2, 81479x38 West Syndrome, ADSL, ALDH5A1, ALDH7A1, AMT, ARX, BTD, CDKL5, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOLR1, FOXG1, GABRG2, GAMT, GCH1, GLDC, GRIN2A, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, MAGI2, MBD5, MECP2, MEF2C, MFSD8 , MMACHC, MTHFR, NRXN1, PCBD1, PHGDH, PNKP, PNPO, POLG, PPT1, PRRT2, PTS, QDPR, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2 8 weeks
Infantile Neuroaxonal Dystrophy, PLA2G6, Deletion/Duplication 1681 81479 INAD, PLA2G6-Related Infantile Neuroaxonal Dystrophy, Seitelberger Disease, NBIA, PLAN, Atypical NAD, Dystonia-parkinsonism 14 - 21 Days
Infantile Neuroaxonal Dystrophy, PLA2G6, Sequencing 1682 81479 INAD, PLA2G6-Related Infantile Neuroaxonal Dystrophy, Seitelberger Disease, NBIA, PLAN, Atypical NAD, Dystonia-parkinsonism 14-21 days
Infantile Neuroaxonal Dystrophy, PLA2G6, Sequencing and Deletion/Duplication 1680 81479x2 INAD, PLA2G6-Related Infantile Neuroaxonal Dystrophy, Seitelberger Disease, NBIA, PLAN, Atypical NAD, Dystonia-parkinsonism 14 – 21 Days
Inherited Breast Cancer Panel 1691 81211, 81321, 81323, 81405, 81406, 81408, 81479, ************************UPDATED CPT Codes as of 01.01.2019***********************, 81162, 81321, 81323, 81405, 81406, 81408, 81479 BRCA1, BRCA2, PTEN, TP53, PALB2, ATM, CHEK2 3 weeks
Inherited Breast/Gyn Cancer Panel 1696 81162 ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 3 weeks
Inherited Cancer Panel 1690 81408 Familial Cancer, Hereditary Cancer, Breast Cancer, Ovarian Cancer, Endometrial Cancer, Colon Cancer, Colorectal cancer, Lynch Syndrome, Renal Cancer, Pancreatic Cancer, Multiple Endocrine Neoplasia, Melanoma, Birt-Hogg-Dube, Bloom, Carney Complex, Gorlin Syndrome, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, EPCAM, FH, FLCN, HOXB13, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2 3 weeks
Inherited Colon Cancer Panel 1692 81201, 81203, 81292, 81294, 81295, 81297, 81298, 81300, 81317, 81319, 81403, 81406, 81479x2 APC, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, GREM1, POLD1 3 weeks
Inherited Ovarian Cancer Panel 1693 81211, 81292, 81294, 81295, 81297, 81298, 81300, 81317, 81319, 81403, ****UPDATED CPT Codes as of 01.01.2019****, 81162, 81292, 81294, 81295, 81297, 81297, 81300, 81317, 81319, 81403 BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM 3 weeks
Inherited Pancreatic Cancer Panel 1694 81408 APC, ATM, BMPR1A, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, FANCC, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PALLD, PMS2, SMAD4, STK11, TP53, TSC1, TSC2, VHL 3 weeks
Inherited Prostate Cancer Panel 1695 81162 ATM, BRCA1, BRCA2, CHECK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53 3 weeks
JAK2 Exon 12 Mutation Analysis 4736 81403 JAK2 exon 12 mutation polycythemia vera 7-10 days
JAK2 V617F Quantitative Mutation Analysis 4734 81270 JAK2 Quant, Myeloproliferative Disorder 7-10 days
JAK2 V617F Quantitative Mutation Analysis, with Reflex to Calreticulin 4740 81219, 81270 JAK2 Quant, Myeloproliferative Disorder, CALR 7-10 days
Joubert Syndrome Panel 1725 81406, 81407x2, 81408, 81479x18 Brain malformations, Ciliopathies, Seizures/Epilepsy, Eye disorders, AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP290, CEP41, INPP5E , KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TTC21B 8 weeks
Juvenile Polyposis Syndrome (JPS), BMPR1A Sequencing 1700 81479 BMPR1A full gene sequencing, Juvenile polyposis syndrome sequencing 14 - 21 days
Juvenile Polyposis Syndrome (JPS), SMAD4 Sequencing 1710 81406 SMAD4 full gene sequencing, Juvenile polyposis syndrome sequencing 14 - 21 days
KIT - AML 4206 81404 KIT (cKIT) Mutation Screening for Acute Myelogenous Leukemia (exons 8 & 17) 7-10 days
KIT - Mastocytosis 4208 81272 KIT (cKIT) Mutation Screening for Mastocytosis and Mast Cell Leukemia (exon 17) 7-10 days
KIT - Melanoma 4210 81272 KIT (cKIT) for Malignant Melanoma (exons 11, 13, & 17) 7-10 days
KRAS Mutation Analysis 4800 81276 KRAS, KRAS Gene Mutation (exons 1, 2) 7 - 10 days
Limb-Girdle Muscular Dystrophy Panel 1297 81161, 81404x5, 81405x9, 81406x8, 81407x3, 81408x2, 81479x10 Neuromuscular disorders, ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA , GNE, ISPD, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TRIM32, TTN, VCP 8 weeks
Long QT Syndrome and Short QT Syndrome 2300 81413 Syncopal Episodes, Torsades de pointes tachyarrythmia, Atrial Fibrillation, AKAP9, ANK2, CACNA1C, CALM1, CASQ2, CAV3 , KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN4B, SCN5A, SNTA1 8 weeks
Low HDL Panel 1860 81479x5 Tangier disease, ABCA1, ABCG1, APOA1, LCAT, SCARB1 8 weeks
Lung Cancer Panel (EGFR, ALK, ROS1) 4825 83890, 88368 , 88369 EGFR Gene Mutation (Exons 18, 19, 20 & 21), FISH for ALK and ROS1 Gene Rearrangements 7-10 days
Macrocephaly Panel 1990 81236, 81321, 81406, 81479x8 CUL4B, EZH2, GLI3, MED12, NFIX, NSD1, PHF6, PIK3CA, PTCH1, PTEN, UPF3B 8 weeks
Marginal Zone Lymphoma (MZL) FISH Panel 7454 88271x4, 88275x4, 88368x1 (FFPE Only), 88369x3 (FFPE Only) MZL FISH, MALT FISH 5 – 10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Maternal Cell Rule-Out 1980 81265 Maternal Cell Contamination Testing, Maternal Cell Rule-Out, MCC 7-10 Days
Maturity-Onset Diabetes of the Young Panel 1895 81403, 81404x2, 81405x2, 81406x2, 81407, 81479x17 MODY, ABCC8, AKT2, BLK, CISD2, CP, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A , IER3IP1, INS, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PTF1A, RFX6, SLC2A2, WFS1 8 weeks
Melanoma Panel 4900 81210, 81404x2 BRAF, NRAS, KIT for melanoma 7-10 days
MET Amplification - FISH 8500 88271, 88275, 88368 FFPE 3-7 days
MGMT Methylation 5005 81287 MGMT 7-10 calendar days
Microcephaly Panel 2000 81302, 81404, 81405x2, 81406x4, 81407, 81479x19 ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN , NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2 8 weeks
Microsatellite Instability (MSI) with Immunohistochemistry (IHC) 4850 81301, 88387, G0452, 88342 Hereditary Nonpolyposis Colorectal Cancer Mismatch repair genes and proteins, Colorectal cancer, MLH1, MSH2, MSH6, PMS2, HNPCC 7 - 14 days
Microsatellite Instability (MSI), Lynch Syndrome (HNPCC) 5000 81301 Hereditary Nonpolyposis Colorectal Cancer, Mismatch repair genes and proteins, Colorectal cancer, MLH1, MSH2, MSH6, PMS2, Lynch Syndrome 7 - 14 days
Migraine and Strokes Panel 1135 81405x2, 81406x2, 81407x2, 81408, 81479, ****************************************New codes as of 01/.01/.2019*****************, 81185, 81405x2, 81406x2, 81407, 81408, 81479 CADASIL, CARASIL, Familial hemiplegic migraine, ATP1A2, CACNA1A , COL4A1, HTRA1, NOTCH3, POLG, SCN1A, SLC2A1 8 weeks
Miller-Dieker FISH 7510 88271, 88273 17p13.3 deletion 5-12 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN), C19orf12, Sequencing 1145 81479 C19orf12, NBIA 14 – 21 days
Mitochondrial Studies: Deletion/Duplication 2026 81479 CPEO, Kearns-Sayre Syndrome (KSS), Pearson Syndrome, PLOG-Related Disorders 14 – 21 Days
MLH1 Promoter Hypermethylation 2027 81288 MLH1 methylation, promoter methylation, MLH1 14-21 days
MLH1 Sequencing 2028 81292 MLH1 full gene sequencing, Lynch Syndrome sequencing, HNPCC 14 – 21 days
MLH1 Sequencing and Deletion/Duplication 2030 81292, 81294 MLH1 full gene sequencing and deletion/duplication, Lynch Syndrome sequencing and deletion/duplication 14 - 21 days
MLH1, Deletion/Duplication 2029 81294 Lynch Syndrome, Hereditary Non-Polyposis Colon Cancer, (HNPCC) 14 - 21 days
MLH1, MSH2, and MSH6 Sequencing and Deletion/Duplication Panel 4870 81292, 81294, 81295, 81297, 81298, 81300 Lynch Syndrome, Hereditary Non-Polyposis Colon Cancer, HNPCC 14 – 21 days
MLL Partial Tandem Duplication (Acute Myeloid Leukemia) 5008 81479 MLL PTD, Partial tandem duplication, 11q23 abnormality, ALL-1 gene mutations 7-10 days
Movement Disorders Panel 2055 81321 – PTEN, 81404x5, 81405x8, 81406x13, 81407, 81408x2, 81479x62, ********************************New Codes as of 01/.01/.2019*************************, 81185, 81321, 81404x5, 81405x8, 81406x13, 81408x2, 81479x62 Dystonia, Parkinsons, ADAR, AFG3L2, AP1S2, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, C19orf12, CACNA1A, CHMP2B, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DDC, DLAT, DRD2, DRD5, EARS2, ERCC6, FA2H, FASTKD2, FBXO7, FOXG1, FOXRED1 , FTL, FUCA1, GAMT, GBA, GCDH, GCH1, HPRT1, KCNQ2, KIF1A, L2HGDH, LRRK2, MAPT, MAT1A, MCOLN1, MMADHC, MPV17, MR1, NPC2, PANK2, PARK2, PARK7, PDHX, PINK1, PLA2G6, PLP1, PNKD, POLG, PRRT2, PSEN1, PTEN, PTS , QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHAF1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC46A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREM2, TREX1, TRIM32, VPS35, WDR45, VPS13A 8 weeks
MPL Mutation Analysis 5010 81403 Myeloproliferative leukemia gene mutation, Essential thrombocythemia, Myelofibrosis 7-10 days
MSH2 Deletion/Duplication Only 2033 81297 Lynch Syndrome, Hereditary Non-Polyposis Colon Cancer, (HNPCC) 14 - 21 days
MSH2 Sequencing 2032 81295 MSH2 full gene sequencing, Lynch Syndrome sequencing, HNPCC 14 – 21 days
MSH2 Sequencing and Deletion/Duplication 2034 81295, 81297 MSH2 full gene sequencing and deletion/duplication, Lynch Syndrome sequencing and deletion/duplication 14 - 21 days
MSH6 Sequencing 2036 81298 MSH6 full gene sequencing, Lynch Syndrome sequencing , HNPCC 14 – 21 days
MSH6 Sequencing and Deletion/Duplication 2038 81298, 81300 MSH6 full gene sequencing and deletion/duplication, Lynch Syndrome sequencing and deletion/duplication 14 - 21 days
MSH6, Deletion/Duplication 2037 81300 Lynch Syndrome, Hereditary Non-Polyposis Colon Cancer, (HNPCC) 14 - 21 days
MTHFR Mutation (Methylene-tetrahydrofolate Reductase) (C677T) 2040 Homocysteine, DNA Test, Methylene Tetrahydrofolate Reductase, MTHFR (C677T)
Multiple Endocrine Neoplasia Type 2, RET, Sequencing 5020 81405 MEN2A, MEN2B, Familial Medullary Thyroid Carcinoma, FMTC 14-21 Days
Multiple Myeloma FISH Panel 7520 88271x8, 88275x8, 88368x1 (FFPE), 88369x7 (FFPE) Multiple Myeloma FISH, Plasma Cell, Myeloma FISH, MM FISH 5-10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
MUTYH-Associated Polyposis (MAP), MUTYH (MYH) Sequencing 2045 81406 MUTYH (MYH) full gene sequencing, MUTYH-Associated Polyposis (MAP) sequencing , Familial Adenomatous Polyposis (FAP) sequencing 14 - 21 days
MYD88 Mutation Analysis 8099 81305 Waldenstroms Macroglobulinemia/lymphoblastic lymphoma, WM/LPL, MGUS 7-10 days
Myelodysplastic Syndrome (MDS) FISH Panel 7500 88271x7, 88275x7, 88368x1 (FFPE), 88369x6 (FFPE) Myelodysplastic Syndrome, MDS FISH 5 – 10 days Contact Lab at 855-KDL-1LAB (535-1522). Time varies depending on number of tests performed per specimen.
Myotonic Dystrophy (DM) 2050 81401, 81404, , ***New CPT Codes as of 01/01/2019***, 81234, 81239 if expanded DM, Dystrophica Myotonica 1, Steinert Disease, Myotonic Dystrophy 14 – 21 Days
Neurodegeneration with Brain Iron Accumulation (NBIA) Sequencing 2101 81405, 81479x20 NBIA NGS, ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, FUCA1, KIF1A, KMT2B (MLL4), MECR, PANK2, PLA2G6, PSEN1, SCP2, SCL39A14, SQSTM1, TRIM32, UBTF, VPS13A, WDR45 8 weeks
Neurodegeneration with Brain Iron Accumulation (NBIA), Deletion/Duplication 2102 81228 NBIA NGS, ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, FUCA1, KIF1A, PANK2, PLA2G6, SLC39A14, SQSTM1, TRIM32, VPS13A, WDR45 8 weeks
Neurodegeneration with Brain Iron Accumulation (NBIA), Sequencing and Deletion/Duplication 2100 81405, 81479x20, 81228 NBIA NGS, ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, FUCA1, KIF1A, KMT2B (MLL4), MECR, PANK2, PLA2G6, PSEN1, SCP2, SLC39A14, SQSTM1, TRIM32, UBTF, VPS13A, WDR45 8 weeks
Neuroferritinopathy, FTL, Sequencing 1550 81479 Neurodegeneration with Brain Iron Accumulation , NBIA, Ferritinopathy, Ferritin Light Chain, FTL1 14-21 days
Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy Panel 1159 81405x3, 81406x4, 81407x2, 81479x3 LVNC, Intertrabecular Recesses, ACTC1, ACTN2, DTNA, LDB3, LMNA, MYBPC3, MYH7, MYL3, TAZ, TNNT2, TPM1, VCL 8 weeks
Noonan and Other Related Disorders 2135 81442 Cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, Multiple Lentigenes, LEOPARD syndrome, Loose anagen hair (NSLAH), BRAF, CBL , HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1 8 weeks
NRAS Mutation Analysis 5100 81404 NRAS Gene Mutation (exons 1, 2) 7-10 days
NSCLC FISH Panel (ALK, RET, ROS1, MET) 7600 88368x1 (FFPE), 88369x3 (FFPE) Lung Cancer FISH Panel, GeneTrails FISH, NSCLC FISH, ALK, RET, ROS1, MET FISH: 5 - 7 days
Nucleophosmin Mutation Testing in Acute Myeloid Leukemia 5080 81310 NPM or NPM1 mutation, Gene mutation for AML 7-10 days
Oncology Microarray - Targeted Gene and Region Panel 6515 81405 Oncology array, Cancer array, Chromosomal microarray, CMA, Cancer copy number analysis, Oncology copy number analysis, SNP array 7-12 days Contact Lab at 855-KDL-1LAB (535-1522)
p16 (9p) FISH 8615 88271, 88275, 88368 FFPE 3-7 days
Pantothenate Kinase Assoc. Neurodegeneration (PKAN), PANK2, Deletion/Duplication 2232 81479 Hallervorden-Spatz Syndrome, PANK2, Pantothenate Kinase-associated Neurodegeneration, NBIA 14 – 21 days
Pantothenate Kinase-Associated Neurodegeneration (PKAN), PANK2, Sequencing 2231 81479 Hallervorden-Spatz Syndrome, PANK2, NBIA 14-21 days
Pantothenate Kinase-Associated Neurodegeneration (PKAN), PANK2, Sequencing and Deletion/Duplication 2230 81479x2 Hallervorden-Spatz Syndrome, PANK2, NBIA 14 – 21 days
Parkinson’s Disease Panel 2240 81405, 81406x4, 81408, 81479x13 Parkinsons, ATP13A2, ATP1A3, CSF1R, DCTN1, FBXO7, GBA, GCH1, LRRK2, MAPT , PARK2, PARK7, PINK1, PLA2G6, POLG, SLC6A3, SNCA, TAF1, TH, VPS35 8 weeks
PDGFRA - GIST 5250 81314 PDGFRA mutation screening for gastrointestinal stromal tumor (GIST) (exons 12, 14, 18) 10 - 14 days
PIK3CA Mutation Analysis 5270 81309 PIK3CA, PI3 Kinase 10 - 14 days
Platelet Disorders Panel 2250 81406, 81407, 81408, 81479x68 A2M, ABCA1, ANKRD26, ANO6, AP3B1, Bernard-Soulier, BLOC1S6, CD36, Coagulation disorders, Comprehensive Bleeding Disorder Panel, DHCR24, DPAGT1, DTNBP1, F2, F5, F7, F8, F9, F10, F11, F13A1 , F13B, FERMT3, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX;, Glanzmann thromlasthenia, GNAQ, GNAS, GP1BA, GP6, GP9, Hermansky-Pudlak, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2, ITGA2B, ITGB3, KLKB1, LMAN1, LYST, MCFD2, MASTL, MLPH, MPL, MYH9, MYO5A, NBEAL2, P2RX1, P2RY12, PLA2G4A, PLA2G7, Platelet dysfunctions, PLAU, RAB27A, RASGRP2, RUNX1, SERPINA1, SERPINE1, SERPINF2, STIM1, TBXA2R, TBXAS1, Thrombocytopenia, USF1, VIPAS39, VKORC1, Von Willebrand Disease, VPS33B, VWF, WAS, Wiskott-Aldrich 8 weeks
PML/RARA t(15;17) FISH 8636, 8637 FFPE 88271, 88275, 88368 FFPE APL 3-7 days
PML-RARA Quantitative RT-PCR (Acute Promyelocytic Leukemia) 5300 81315, 81316 15;17 translocation PCR, Acute Promyelocytic Leukemia (APL) PCR, M3 leukemia diagnosis and monitoring 7-10 days
PMS2 Deletion/Duplication 5052 81319 Lynch Syndrome, HNPCC 14-21 days
PMS2 Sequencing 5051 81317 Lynch Syndrome Sequencing, HNPCC 14-21 days
PMS2 Sequencing and Deletion/Duplication 5050 81317 – Sequencing, 81319 – Del/Dup Lynch Syndrome Sequencing, HNPCC 14-21 days
Prader-Willi / Angelman Syndrome Methylation and Deletion/Duplication 1020 81331 SNRPN 14-21 days
Prader-Willi Syndrome (SNRPN/D15S10) FISH 7020 88271, 88275 3-7 days
Premature Chromatid Separation Analysis 6620 88237, 88249 Chromosome Instability, Roberts syndrome 7-14 Days, depending on tissue source
Progressive External Ophthalmoplegia 2265 81404, 81405, 81406, 81407, 81479 C10ORF2, OPA1, POLG, POLG2, RRM2B, SLC25A4 Weekly
Propionic Acidemia Panel 2270 81406x2 PCCA, PCCB 8 weeks
Prothrombin Gene Mutation (G20210A) 2290 81240 Prothrombin Mutation, Prothrombin (G20210A) Mutation, Factor II 7 – 10 Days
PTEN Expression by Immunohistochemistry 5350 88342 PTEN IHC 5 calendar days or less
PTEN FISH 8642 88271, 88275, 88368 FFPE PTEN FISH, Chromosome 10 deletion, CHR 10 3 - 7 days
PTPN11, Sequencing 2130 81406 PTPNII, Noonan Syndrome 14 – 21 days
Quantitative Intracellular Signaling Panel - Research only 4815 81479 Nanostring protein assay, Vantage 3D Solid Tumor Panel, Phospho-protein panel 7-10 days
RB1/D13S319 FISH 8692 88271, 88275, 8368 FFPE Multiple Myeloma, Retinoblastoma, 13q-, del(13)(q14) 3 - 7 days
Respiratory Chain Deficiency Panel 2390 81404x5, 81405x11, 81406x7, 81479x33 ATP5E, ATPAF2, BCS1L, COX10, COX15, COX4I1, COX4I2, COX6B1, COX7A1, DLAT, DLD, FASTKD2, FOXRED1, LRPPRC, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB6, NDUFS1 , NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NUBPL, PDHA1, PDHB, PDHX, PDP1, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SURF1, TACO1, TMEM70, TTC19, UQCRB, UQCRQ 8 weeks
Restrictive Cardiomyopathy Panel 1170 81404, 81405x3, 81406, 81407x2, 81479x2 RCM, ACTC1, BAG3, CRYAB, DES, MYBPC3, MYH7, TNNI3, TNNT2, TTR 8 weeks
RET FISH 8700 88368 RET kinase marker 3-7 days
Rett - Angelman Syndrome Panel 2405 81406 CDKL5, CNTNAP2, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, MEIS2 , NRXN1, SLC9A6, TCF4, UBE3A, WDR45, ZEB2 8 weeks
Rett Syndrome, Atypical, CDKL5, Sequencing 2404 81406 Atypical RETT Syndrome, Early Infantile 2 (EIEE2), Epileptic Encephalopathy, Infantile Spasm Syndrome X-linked (ISSX2), Rett Syndrome Variant with Infantile Spasms 14 - 21 Days
Rett Syndrome, MECP2, Deletion/Duplication 2403 81304 MECP2 Duplication Syndrome, MECP2-Related Disorders, MLPA-Rett Testing, Rett Syndrome Congenital Variant 14 – 21 days
Rett Syndrome, MECP2, Sequencing 2400 81302 MECP2-Related Disorders, Rett Syndrome Congenital Variant, Methyl-CpG-Binding Protein 2 14 – 21 days
Rett Syndrome, MECP2, Sequencing and Deletion/Duplication 2402 81302, 81304 MECP2 Duplication Syndrome, MECP2-Related Disorders, MLPA-Rett Testing, Rett Syndrome Congenital Variant 14 – 21 days
ROS1 FISH 8720 88368 ROS1 kinase marker, ROS, ROS 1 5-7 days
Septo-Optic Dysplasia and Schizencephaly Panel 2590 81408, 81479x6 SOD, COL4A1, EMX2, HESX1, OTX2, SHH, SIX3, SOX2 8 weeks
SHOX FISH 8756 88271, 88275 Xp22 deletion 5-12 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Sister Chromatid Exchange Analysis 6650 88230, 88283, 88285 Chromosome Instability, SCE, Bloom syndrome 7-10 days for blood samples, and 10-18 days for skin fibroblasts.
Sitosterolemia, ABCG5 Sequencing 2600 81479 ABCG5 full gene sequencing, Sitosterolemia sequencing 14 - 21 days
Sitosterolemia, ABCG8 Sequencing 2610 81479 ABCG8 full gene sequencing, Sitosterolemia sequencing 14 - 21 days
Smith-Magenis Syndrome (SMS) FISH 7750 88271, 88275 del(17)(p11.2), SMS 3 - 7 days
SNP Microarray – Products of Conception 6550 81229 Array comparative genomic hybridization, aCGH, Microarray, Competitive genomic hybridization, Chromosome microarray 14-21 days (Note: Routine cases will be reported at the low-end of our turnaround time range; in rare cases, turnaround times may be longer because of confirmation studies – the referring clinician will be kept abreast of the situation.)
Solid Tissue / Fibroblasts (includes POC): Full Chromosome Study reflexed to FISH 6754 88233, 88262, 88280 10-21 Days
Solid Tissue / Lymph Node: Full Chromosome Study reflexed to FISH 6460 88239, 88262, 88280, 88285 Lymphoma Chromosomes 7-10 Days
Solid Tissue / Spleen: Full Chromosome Study reflexed to FISH 6750 88239, 88262, 88280, 88285 7-10 days
Solid Tissue / Tumor: Full Chromosome Study reflexed to FISH 6810 88239, 88262, 88280 10-12 Days
SRY (Y chromosome) FISH 8772 88271, 88275 del(Y)(p11.3), gonadal dysgenesis, sex reversal 5-12 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Steroid Sulfatase (STS) FISH 8775 88271, 88275 X-linked ichthyosis, STS 3 - 7 days
T-Acute Lymphoblastic Leukemia (T-ALL) FISH 8178 88271x6, 88275x6, 88368x1 (FFPE), 88369x5 (FFPE) T-ALL FISH, T-CELL ALL FISH 5 – 10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
T-Cell Receptor (TCR) Gene Rearrangement, PCR 5592 81340, 81342 T-Cell Rearrangement, Gene Rearrangement for T-cell lymphoma, T-Cell Clonality, T-Cell Receptor Gamma Clonality, T-Cell Receptor Beta Clonality 5-10 days
Thrombocytosis Panel 4376 81219, 81270, 81403 JAK2 V617F, Calreticulin, MPL 7-14 days
Trifunctional Protein Deficiency 2630 81406x2 HADHA, HADHB 8 weeks
TTR Sequencing 1175 81404 Transthyretin, Transthyretin amyloidosis 14-21 days
Urea Cycle Disorders 2640 81405, 81406, 81479x4 ARG1, ASL, ASS1, CPS1, NAGS, OTC 8 weeks
Velocardiofacial Syndrome (TUPLE1) FISH 7870 88271 , 88275 DiGeorge syndrome , Deletion 22q11.2 syndrome , TUPLE1 3 - 7 days
von Hippel-Lindau (VHL) Disease, VHL, Sequencing 2725 81404 VHL full gene sequencing, Von Hippel-Lindau Disease sequencing 14-21 days
Williams Syndrome (ELN) FISH 7900 88271, 88275 del(7)(q31), ELN 3 - 7 days
Wilson Disease Panel 2810 81406 ATP7B 2-3 weeks
Wolf-Hirschhorn Syndrome (WHS) FISH 7920 88271, 88275 4p-, del(4)(p16.3), WHS 3 - 7 days
X-Linked Intellectual Disabilities Deletion/Duplication Panel 2832 81471 XLID, ACSL4, AFF2, AP1S2, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, L1CAM, LAMP2, MAOA, MBTPS2, MECP2, MED12, MID1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZDHHC15, ZDHHC9, ZNF711 8 weeks
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel 2830 81470, 81471 ACSL4, AFF2, AP1S2, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, LAM, LAMP2, MAOA, MBTPS2, MECP2, MED12, MID1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1 , PGK1, PHF6, PHF8, PLP, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, XLID, ZDHHC15, ZDHHC9, ZNF711 8 weeks
X-Linked Intellectual Disabilities Sequencing Panel 2831 81470 XLID, ACSL4, AFF2, AP1S2, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, L1CAM, LAMP2, MAOA, MBTPS2, MECP2, MED12, MID1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1 , PGK1, PHF6, PHF8, PLP, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZDHHC15, ZDHHC9, ZNF711 8 weeks
Zygosity Testing 2900 81265 Twin studies 7 – 10 Days

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

Learn More