Test Code CPT Code Synonyms Turn Around Time
12 Centromere FISH 8091 88271, 88275 3-7 days
3-methylcrotonyl-CoA Carboxylase Deficiency Panel Contact KDL for billing information 3-MCC deficiency, MCCC1, MCCC2
8 Centromere FISH 8087 88271, 88275 3-7 days
Achromatopsia, CNGA3/CNGB3, Sequencing Contact KDL for billing information Achromatopsia Sequencing, Autosomal Recessive Stargardt Disease Pingelapese Achromatopsia, Pingelapese Blindness; Rod Monochromatism 2
Acute Myelogenous Leukemia (AML) FISH Panel 7014 88271 x 11, 88275 x 11, 88368 x 1 (FFPE), 88369 x 10 (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 88271x14, 88275x14, 88368x1 (FFPE), 88369x13 (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.
Agenesis of the Corpus Callosum Panel Contact KDL for billing information Andermann syndrome, L1CAM disorders
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 Contact KDL for billing information ALS, ALS2, ANG, ATXN2, C9ORF72, CHMP2B, DCTN1, FIG4, FUS, NEFH, OPTN , PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA
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
APOL1, Sequencing 1050 81479 Apolipoprotein 1 7-14 Days
Arrhythmogenic Right Ventricular Cardiomyopathy Contact KDL for billing information ARVC, Ventricular Arrhythmia, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2, RYR2, TGFB3, TMEM43, TTN
Autosomal Dominant Osteogenesis Imperfecta Panel 2264 81408 COL1A1, COL1A2 , IFITM5, LRP5, Brittle bone disease, Fragilitas ossium, OI, Vrolik disease 8 weeks
B-Acute Lymphoblastic Leukemia (ALL) FISH 7010 88271x9, 88275x9, 88368x1 (FFPE), 88369x8 (FFPE) B-ALL FISH, B-CELL FISH, ALL FISH 5 - 10 days Contact lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
B-Cell IGH Gene Rearrangement 4071 81261 Immunoglobulin (IgH) Gene Rearrangement, Immunoglobulin (IgH) Clonality, Immunoglobulin light chain clonality, Gene rearrangements for B-cell lymphoma, B cell gene rearrangement for clonality 7-10 days
B-Cell IGK Gene Rearrangement 4072 81264 Kappa gene rearrangement, Kappa gene clonality, Gene rearrangements for B-cell lymphoma, B cell gene rearrangement for clonality 7-10 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 sequencing, BPAN sequencing, NBIA Sequencing 21 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 81441 Aplastic anemia, Fanconi anemia, Diamond Blackfan anemia, Shwachman Diamond anemia, Dyskeratosis congentia, Myelodysplastic anemia, ABCB7, ACD, ADA2, AK2, ALAS2, ANKRD26, ATM, ATR, BLM, BRCA1, BRCA2, BRIP1 , c6orf25, CBL, CDAN1, CECR1, CLPB, CSF3R, CTC1, CXCR4, DDX41, DKC1, DNAJC21, EFL1, EFTUD1, ELANE, EPO, ERCC4, ERCC6L2, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, HOXA11, ITK, JAGN1, KLF1, KRAS, LIG4, LYST, MAD2L2, MECOM, MPIG6B, MPL, MYSM1, NBN, NHP2, NOP10, NRAS, PALB2, PARN, PRF1, PTPN11, PUS1, RAB27A, RAC2, RAD51, RAD51C, RBM8A, RFWD3, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15, RSP15A, RPS19, RPS24, RPS26, RPS27, RPS27A, RSP28, RPS29, RTEL1, RUNX1, SAMD9, SAMD9L, RPS7, SBDS, SLC37A4, SLX4, SMARCD2, SRP54, SRP72, TBXAS1, TCN2, TERC, TERT, THPO, TINF2, TP53, TSR2, UBE2T, USB1, VPS45, WAS, WDR1, WIPF1, WRAP53, XRCC2, ZCCHC8 3-4 weeks
Bone Marrow: Full Chromosome Study reflexed to FISH 6066 88237, 88262, 88280 Chromosomes, Bone Marrow, Full 7– 10 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 Contact KDL for billing information CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4
BTK Inhibitor Acquired Resistance Panel 4130 81233, 81320 PLCG2, Ibrutinib resistance 14-18 days
BTK, Exon 14, Sequencing 4125 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 Contact KDL for billing information Ventricular Tachycardia, CPVT, ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN
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 Contact KDL for billing information 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
Childhood Epilepsy Panel Contact KDL for billing information Infantile Epilepsy, Epilepsy/Seizures, Juvenile myoclonic epilepsy
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 - AML 4206 81404 KIT (cKIT) Mutation Screening for Acute Myelogenous Leukemia (exons 8 & 17) 7-10 days
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
Comprehensive Arrhythmias Panel Contact KDL for billing information Syncopal Episodes, Torsades de pointes tachyarrythmia, Atrial Fibrillation, Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT, Brugada syndrome, Long QT, Short QT
Comprehensive Brain Malformations Panel Contact KDL for billing information 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
Comprehensive Cardiomyopathy Panel Contact KDL for billing information 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
Comprehensive Neuromuscular Panel Contact KDL for billing information 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
Congenital Disorders on Glycosylation Panel Contact KDL for billing information 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
Congenital Muscular Dystrophy Panel Contact KDL for billing information Neuromuscular disorders, Dystroglycanopathies, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKRP, FKTN , ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMT1, POMT2, RYR1, SEPN1, TCAP
Congenital Muscular Myopathy Panel Contact KDL for billing information 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, PHEX, POR, RAB23, RECQL4, SEC24D, SKI, SLC25A24, TCF12, 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
CXCR4 Mutation Testing 4133 81479 Lymohoplasmacytic lymphoma, Waldenstroms, WM, LPL 14-18 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 Contact KDL for billing information 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
Diffuse Large B-Cell Lymphoma (DLBCL) FISH Panel 7450 88271x5, 88275x5, 88368x1 (FFPE), 88369x4 (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 Contact KDL for billing information 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, TNNT2, TPM1, TTN, TXNRD2, VCL
Disorders of Sex Development Panel 1697 81173 Ambiguous genitalia, Bifid scrotum, Cryptorchidism, DSD, Gonadal dysgenesis, Hypogonadotropic hypogonadism, Hypospadius, Micropenis, Sex reversal 8 weeks
Duchenne/Becker Muscular Dystrophy, DMD/BMD, Deletion/Duplication 1280 81161 Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, DMD, BMD, Dystrophin 14 - 21 Days
Dyslipidemia Panel Contact KDL for billing information HMGCR, NPC1L1
Dystonia Panel Contact KDL for billing information 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
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.
Engraftment (Chimerism) Analysis for Allogeneic Hematopoietic Stem Cell 4380 (Donor Pre-Transplant), 4382 (Recipient Pre-Transplant), 4388 (Post-Transplant Chimerism), 4390 (Post-Transplant Sorted Cell Chimerism) 81267 (for 4388), 81260 (for 4390) Pretransplant DNA storage, Post-transplant DNA for engraftment study, DNA from sorted cells for chimerism study 7-10 days
Epilepsy/Seizures panel 1291 81408 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
Erythrocytosis Panel 4375 81270, 81279 JAK2 V617F, JAK2 Exon 12 7-10 days
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
EZH2 Mutation Testing 4138 81236 Follicular lymphoma 14-18 days
Fabry Disease Contact KDL for billing information GLA
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 Aneurysm and Aortopathy Contact KDL for billing information 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
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 81479 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
Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN), FA2H, Sequencing 1400 81479 FAHN, FA2H, NBIA 14 – 21 Days
Fatty Acid Oxidation Deficiency Panel Contact KDL for billing information ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH , GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, SLC22A5, SLC25A20, TAZ
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
Fragile X Syndrome 1480 81243, 81244 (if expansion is found) FMR1-Related Disorders, FMR1, FMR1-related primary ovarian insufficiency (POI), FXTAS Fragile X Tremor Ataxia Syndrome, Frax A Mental Retardation 7-10 days. If expansion found, add 14 days to turn around time.
Full Gene(s) Analysis 1240 Contact KDL for billing information Full Gene Sequencing, Custom Sequencing, Custom Panel(s) 1 gene = 3 weeks, 2+ genes = 6 weeks
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 81450 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 Heme Fusion Gene Panel 4610 81456 Leukemia gene fusion panel, Leukemia RNA fusion transcripts (by NGS), Leukemia translocation genes (by NGS) 14-18 days
GeneTrails Solid Tumor Fusion Gene Panel 4480 81445 Fusion gene, Gene fusion, ALK, FGFR2, FGFR3, NTRK, NUTM1, ROS1 10-17 days
GeneTrails Solid Tumor Panel with Reflex to Solid Tumor Fusion Gene Panel 5440 81445 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 10-17 days
Genome-Wide DNA Methylation Array 6527 81277 Methylation profiling, Methylation analysis, Methylation signature, Methylation array 2-3- weeks
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 Contact KDL for billing information Intrahepatic cholestasis, Citrin deficiency, Alagille syndrome
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, A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, AIFM1, ALMS1, ANKH, AP1B1, ARSB, ARSG, ASIC5, ATOH1, ATP11A, ATP1A3, ATP2B2, ATP6V1B1, BSC1L, BDP1BSND, BTD, C10ORF2, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CDKN1C, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL1A1, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAJC3, DNMT1, DSPP, DTNA, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRRB, EYA1, EYA4, FAM65B, FDXR, FGF3, FGFR3, FITM2, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPR98, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, HARS, HARS2, HGF, HOMER2, HOXA2, HSD17B4, IFNLR1, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MAFB, MAP1B, MARVELD2, MASP1, MCM2, MEPE, MET, MIR96, MITF, MPZL2, MRPS2, MTRNR1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, NOG, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX26, PEX6, PITX2, PLS1, PLS3, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRKCB, PRPS1, PTPRQ, RAI1, RDX, REEP6, REST, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX2, SIX5, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC44A4, SLC52A2, SLC9A1, SLITRK6, SMPX, SNAI2, SOX10, SPNS2, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMEM43, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMT10C, TRRAP, TSHZ1, TSPEAR, TUBB4B, USH1C, USH1G, USH2A, WBP2, WFS1, XYLT2 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 81479 Heterotaxy Syndrome, ACVR2B, ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CITED2, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DRC1, DYX1C1, FOXH1, GAS8, GATA4, GDF1, HEATR2, LEFTY2, LRRC6, NKX2-5, NODAL, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SHROOM3, SMAD2, SPAG1, ZIC3, ZMYND10 8 weeks
High HDL Panel Contact KDL for billing information Hypoalphalipoproteinemia, Cholesteryl ester Transferase Deficiency, CETP deficiency
Holoprosencephaly Panel 1625 81479 HPE, CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1 , GLI2, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2 8 weeks
Huntington Disease 1620 81274 HD, Huntington’s Chorea, HTT 14-21 Days
Hypercholesterolemia Panel 1499 81406 Lipid Disorders, Familial Hypercholesterolemia, FH, Heterozygous FH (HeFH), Homozygous FH (HoFH), APOB, LDLR, LDLRAP1, PCSK9 6-8 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 81479 Trigliceride, Hypertriglyceridemia, APOA5, APOC2, GPIHBP1, LMF1, LPL 6-8 weeks
Hypertrophic Cardiomyopathy Panel Contact KDL for billing information 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
Hypolipidemia and Hypocholesterolemia Panel Contact KDL for billing information ANGPTL3, APOB, MTTP, PCSK9
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 Contact KDL for billing information 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
Infantile Neuroaxonal Dystrophy, PLA2G6, Sequencing 1682 81479 INAD, PLA2G6-Related Infantile Neuroaxonal Dystrophy, Seitelberger Disease, NBIA, PLAN, Atypical NAD, Dystonia-parkinsonism 14-21 days
Inherited Breast Cancer Panel 1691 81162 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 81317 APC, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, GREM1, POLD1 3 weeks
Inherited Ovarian Cancer Panel 1693 81162 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, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53 3 weeks
JAK2 Exon 12 Mutation Analysis 4736 81279 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 Contact KDL for billing information 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
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
Limb-Girdle Muscular Dystrophy Panel Contact KDL for billing information 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
Long QT Syndrome and Short QT Syndrome Contact KDL for billing information Syncopal Episodes, Torsades de pointes tachyarrythmia, Atrial Fibrillation, AKAP9, ANK2, CACNA1C, CALM1, CASQ2, CAV3 , KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN4B, SCN5A, SNTA1
Low HDL Panel Contact KDL for billing information Tangier disease, ABCA1, ABCG1, APOA1, LCAT, SCARB1
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 Contact KDL for billing information CUL4B, EZH2, GLI3, MED12, NFIX, NSD1, PHF6, PIK3CA, PTCH1, PTEN, UPF3B
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, MCRO 7-10 Days
Maturity-Onset Diabetes of the Young Panel 1895 81407 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 6-8 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 Contact KDL for billing information 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
Migraine and Strokes Panel 1135 81408 CADASIL, CARASIL, Familial hemiplegic migraine, ATP1A2, CACNA1A , COL4A1, HTRA1, NOTCH3, POLG, SCN1A, SLC2A1 6-8 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
MLH1 Promoter Hypermethylation 2027 81288 MLH1 methylation, promoter methylation, MLH1 14-21 days
Monogenic Hypertension Panel 2142 81406 CACNA1H, CLCN2, CUL3, CYP11B1, CYP11B2, CYP17A1, HSD11B2, KCNJ5, KLHL3, NR3C1, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4 6-8 weeks
Movement Disorders Panel Contact KDL for billing information Dystonia, Parkinsons
MPL Mutation Analysis 5010 81339 Myeloproliferative leukemia gene mutation, Essential thrombocythemia, Myelofibrosis 7-10 days
Multiple Endocrine Neoplasia Type 2, RET, Sequencing 5020 81405 MEN2A, MEN2B, Familial Medullary Thyroid Carcinoma, FMTC 14-21 Days
Multiple Myeloma FISH Panel 7520 88271x10, 88275x10, 88368x1 (FFPE), 88369x9 (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.
MYD88 and CXCR4 Mutation Panel 4141 81305, 81479 Lymphoplasmacytic lymphoma, Waldenstroms, WM, LPL 14-18 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 81234, 81239 if expanded DM, Dystrophica Myotonica 1, Steinert Disease, Myotonic Dystrophy 14 – 21 Days
Neurodegeneration with Brain Iron Accumulation (NBIA) Sequencing 2101 81405 NBIA NGS, ATP13A2, C19orf12, CIA01, COASY, CP, DCAF17, FA2H, FTL, FUCA1, KIF1A, KMT2B (MLL4), MECR, PANK2, PLA2G6, PSEN1, REPS1, SCP2, SCL39A14, SQSTM1, TRIM32, UBTF, VPS13A, WDR45 6-8 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 Contact KDL for billing information LVNC, Intertrabecular Recesses, ACTC1, ACTN2, DTNA, LDB3, LMNA, MYBPC3, MYH7, MYL3, TAZ, TNNT2, TPM1, VCL
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 6-8 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 81277 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-Associated Neurodegeneration (PKAN), PANK2, Sequencing 2231 81479 Hallervorden-Spatz Syndrome, PANK2, NBIA 14-21 days
Parkinson’s Disease Panel 2240 81408 Parkinsons, ATP13A2, ATP1A3, CSF1R, DCTN1, FBXO7, GBA, GCH1, LRRK2, MAPT , PARK2, PARK7, PINK1, PLA2G6, POLG, SLC6A3, SNCA, TAF1, TH, VPS35 6-8 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 81408 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 6-8 weeks
PLCG2 Mutation Testing 4143 81320 BTK inhibitor, Ibrutinib resustance 14-18 days
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
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 Contact KDL for billing information C10ORF2, OPA1, POLG, POLG2, RRM2B, SLC25A4
Propionic Acidemia Panel Contact KDL for billing information PCCA, PCCB
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
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 Contact KDL for billing information 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
Restrictive Cardiomyopathy Panel Contact KDL for billing information RCM, ACTC1, BAG3, CRYAB, DES, MYBPC3, MYH7, TNNI3, TNNT2, TTR
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, 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
RNA Transcriptome 4820 81455 RNA Exome, Transcriptome 21-28 days
ROS1 FISH 8720 88368 ROS1 kinase marker, ROS, ROS 1 5-7 days
Septo-Optic Dysplasia and Schizencephaly Panel 2590 81408 SOD, COL4A1, EMX2, HESX1, OTX2, SHH, SIX3, SOX2 6-8 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.
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 / 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) Beta Gene Rearrangement, PCR 5593 81342 T-Cell Rearrangement, Gene Rearrangement for T-cell lymphoma, T-Cell Clonality, T-Cell Receptor Beta Clonality 7-10 days
T-Cell Receptor (TCR) Gamma Gene Rearrangement 5594 81342 T-Cell Rearrangement, Gene Rearrangement for T-cell lymphoma, T-Cell Clonality, T-Cell Receptor Gamma Clonality 7-10 days
Thrombocytosis Panel 4376 81270, 81219, 81339 JAK2 V617F, Calreticulin, MPL 7-14 days
TP53 Somatic Mutation Testing 4045 81352 10-14 days
Trifunctional Protein Deficiency Contact KDL for billing information HADHA, HADHB
UBA1 Mutation Testing 4147 81403 VEXAS 14-18 days
Urea Cycle Disorders Contact KDL for billing information ARG1, ASL, ASS1, CPS1, NAGS, OTC
Velocardiofacial Syndrome (TUPLE1) FISH 7870 88271, 88273, 88274 DiGeorge syndrome, Deletion 22q11.2 syndrome, TUPLE1 3 - 7 days
von Hippel-Lindau (VHL) Disease, VHL, Sequencing Contact KDL for billing information VHL, Von Hippel-Lindau Disease sequencing
Williams Syndrome (ELN) FISH 7900 88271, 88275 del(7)(q31), ELN 3 - 7 days
Wilson Disease Panel 2810 81406 ATP7B 3 weeks
Wolf-Hirschhorn Syndrome (WHS) FISH 7920 88271, 88275 4p-, del(4)(p16.3), WHS 3 - 7 days
Zygosity Testing 2900 81265 Twin studies 7 – 10 Days
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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.

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