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
|
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.
|
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, LAB102701, LAB102702, LAB102703
|
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), 81268 (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 4, Fusion gene, Gene fusion
|
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
|
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
|
HER-2 (ERBB2) FISH
|
8300
|
88377
|
HER2, HER-2/neu, ERBB2 (17q12-q12)
|
3-7 days
|
Hereditary Hemochromatosis (HFE), Common Variants
|
1600
|
81256
|
HFE, HLA-H Mutation, PCR, Iron, Tissue, DNA Test (Hemochromatosis), C282Y, H63D
|
7-10 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
|
***Updated for 2025*** 81432
|
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
|
5 weeks
|
Inherited Breast/Gyn Cancer Panel
|
1696
|
81432
|
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, Carney Complex, Gorlin Syndrome, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, FH, FLCN, GREM1, HOXB13, KIT, MAX, MBD4, MEN1, MET, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL
|
5 weeks
|
Inherited Colon Cancer Panel
|
1692
|
***Updated for 2025*** 81435
|
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, AP4M1, ATP13A2, C19orf12, CIAO1, COASY, CP, CRAT, DCAF17, FA2H, FTL, FTH1, FUCA1, GTPBP2, KIF1A, KMT2B (MLL4), MECR, PANK2, PLA2G6, PSEN1, REPS1, SCP2, SCL39A14, SQSTM1, TRIM32, UBTF, VAC14, 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
|
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, PWS, ANG
|
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
|