Test Code CPT Code Synonyms Turn Around Time
12 Centromere FISH
8091
88271, 88275
3-7 days
3-methylcrotonyl-CoA Carboxylase Deficiency Panel
1000
81406x2
3-MCC deficiency, MCCC1, MCCC2
8 weeks
8 Centromere FISH
8087
88271, 88275
3-7 days
Achromatopsia, CNGA3/CNGB3, Sequencing
1001
81479
Achromatopsia Sequencing, Autosomal Recessive Stargardt Disease Pingelapese Achromatopsia, Pingelapese Blindness; Rod Monochromatism 2
14-21 days
Acute Myelogenous Leukemia (AML) FISH Panel
7014
88271x9, 88275x9, 88368x1 (FFPE), 88369x8 (FFPE)
AML FISH
3-10 days - Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Adenovirus Qualitative PCR
3040
87798
adenovirus PCR, adenovirus viral load, adenovirus DNA
3-5 days
Adenovirus Quantitative PCR
3040
87799
adenovirus PCR, adenovirus viral load, adenovirus DNA, adenovirus quantitation
1 – 3 days
Agenesis of the Corpus Callosum Panel
1004
81404, 81407, 81479x2
Andermann syndrome, L1CAM disorders, ARX, L1CAM, MRPS16, SLC12A6
8 weeks
ALK FISH
8018
88368
ALK kinase marker, Lung cancer marker
5-10 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
ALK Mutation Analysis
4023
81479
ALK Resistance Mutations
10 - 14 days
Amniotic Fluid: Full Chromosome Analysis
6020
88235, 88267, 88280x2, 88285
Chromosome Analysis, Amniotic Fluid, Full Study, Amniotic Fluid, AF, Amnio
10-11 Days
Amyotrophic Lateral Sclerosis Panel
1010
81403, 81404x2, 81405, 81406x4, 81479x13
ALS, ALS2, ANG, ATXN2, C9ORF72, CHMP2B, DCTN1, FIG4, FUS, NEFH, OPTN , PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA
8 weeks
AneuVysion FISH
7018
88271x5, 88275x5
Prenatal FISH, Aneuploidy Screen, I-FISH
≤3 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Angelman Syndrome (SNRPN/D15S10) FISH
7020
88271, 88275
del(15)(q11.2-q13), Prader-Willi syndrome
3-7 days
Angelman Syndrome Methylation and Deletion/Duplication
1020
81331
Angelman Syndrome, SNRPN
14-21 Days
Angelman Syndrome, UBE3A Sequencing
1030
81406
UBE3A full gene sequencing, Angelman syndrome sequencing
14 - 21 days
APOL1, Sequencing
1050
81479
Apolipoprotein 1
7-14 Days
Arrhythmogenic Right Ventricular Cardiomyopathy
1158
81439
ARVC, Ventricular Arrhythmia, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2, RYR2, TGFB3, TMEM43, TTN
8 weeks
B and T-Cell Receptor (TCR) Gene Rearrangement, PCR
5590
81261, 81264, 81340, 81342
T-Cell Rearrangement, Gene Rearrangement for T-cell lymphoma, T-Cell Clonality, T-Cell Receptor Gamma Clonality, T-Cell Receptor Beta Clonality, Immunoglobulin light chain clonality, Kappa gene rearrangement, Kappa gene clonality, Gene rearrangements for B-cell lymphoma;, B cell gene rearrangement for clonality
5-10 days
B-Acute Lymphoblastic Leukemia (ALL) FISH
7010
88271x9, 88275x9, 88368x1 (FFPE), 88369x8 (FFPE)
B-ALL FISH, ALL FISH, Acute Lymphoblasic Leukemia
5 - 10 days Contact lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
B-Cell Gene Rearrangement
4070
81261, 81264
Immunoglobulin (IgH) Gene Rearrangement, Immunoglobulin (IgH) Clonality, Immunoglobulin light chain clonality, Kappa gene rearrangement, Kappa gene clonality, Gene rearrangements for B-cell lymphoma;, B cell gene rearrangement for clonality
5-10 days
BCL2 Breakapart FISH
8040, 8041 FFPE
88271, 88275, 88368 FFPE
t(14;18)
3-7 days
BCR-ABL Kinase Domain Mutations/ABL Sequencing (Qualitative)
4020
81170
Imatinib resistance mutation testing, Tyrosine kinase inhibitor resistance mutation testing; , ABL mutation testing for chronic myeloid leukemia, T3151 Mutation
7-10 days
BCR-ABL RNA PCR Quantitation for Leukemia
4080
81206, 81207
BCR-ABL RNA, Philadelphia chromosome fusion transcript levels determination, BCR-ABL PCR, CML monitoring, CML minimal residual disease
7-10 Days
Beta-Propeller Protein-Associated Neurodegeneration (BPAN), WDR45 Sequencing
1080
81479
WDR45 full gene sequencing, BPAN sequencing, NBIA Sequencing
14 - 21 days
BK Virus Quantitative PCR
3050
87799
Polyoma virus, BKV DNA, BKV quant
2-5 days
Blood: High Resolution Chromosome Study reflexed to FISH
6054
88230, 88262, 88280, 88289
Chromosomes, Blood, High-resolution
10-12 Days
Bone Marrow Failure Panel
1085
81216, 81405, 81406, 81479x40
Aplastic anemia, Fanconi anemia, Diamond Blackfan anemia, Shwachman Diamond anemia, Dyskeratosis congentia, Myelodysplastic anemia, BRCA2, BRIP1, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC , FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, MPL, NBN, NHP2, NOP10, PALB2, PRF1, RAD51C, RPL11, RPL35A, RPL36 , RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, SBDS, SLX4, SRP72, TERT, THPO, TINF2, USB1, WRAP53, XRCC2
8 weeks
Bone Marrow: Full Chromosome Study reflexed to FISH
6066
88237, 88262, 88280
Chromosomes, Bone Marrow, Full
7– 10 Days
Bordetella pertussis / parapertussis PCR
3060
87798
Pertussis PCR, Whooping Cough
1 - 3 days
BRAF Mutation Analysis
4110
81210
BRAF, BRAF Gene Mutation (exon 15)
7-10 days
BRCA1 and BRCA2 Sequencing and Deletion/Duplication
6000
81211
BRCA1/2
3 weeks
Breakage Analysis: Blood Chromosome Study
6078
88230 , 88249
Fanconi Anemia, Fanconi’s Anemia, FA
7 – 10 Days
Breakage Analysis: Skin Chromosome Study
6080
88233 , 88249
Fanconi Anemia, Fanconi’s Anemia, Somatic mosaicism, FA
28 Days
Brugada Syndrome
1090
81404, 81406, 81407, 81479X6
CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4
8 weeks
BTK, Exon 14, Sequencing
4125
81479
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 – 14 Days
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
1167
81403, 81405, 81408, 81479x3
Ventricular Tachycardia, CPVT, ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN
8 weeks
CEBPA Mutation Testing in Acute Myeloid Leukemia (AML)
4150
81218
CCAAT/enhancer binding protein-alpha mutation testing
7 – 10 Days
CEP X and CEP Y FISH
8080
88271, 88275, 88368 (FFPE)
X/Y Chimerism
5-10 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
Charcot-Marie-Tooth Syndrome Panel
1035
81324, 81325, 81403, 81404x3, 81405x4, 81406x6, 81479x19
Neuromuscular disorders, Peripheral neuropathy, Hereditary motor/sensory neuropathy, AARS, BSCL2, DCTN1, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, HSPB1, HSPB8 , IGHMBP2, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SPTLC1, TRPV4, YARS
8 weeks
Childhood Epilepsy Panel
1290
81302, 81303, 81404x3, 81405x3, 81406x8, 81407x2, 81479x30
Infantile Epilepsy, Epilepsy/Seizures, Juvenile myoclonic epilepsy, ADSL, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A , KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, SYN1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2
8 weeks
Cholestasis Panel
1275
81407, 81479x4
Intrahepatic cholestasis, Citrin deficiency, Alagille syndrome, ABCB4, AKR1D1, ATP8B1, JAG1, SLC25A13
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
88271, 88275, 81229, 88235
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
81223, 81404x5, 81406x11, 81407x6, 81408x4, 81479x88
Nephronophthisis, Orofaciodigital syndrome type 1, Senior-Loken syndrome, Joubert Syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, Heterotaxias, Primary Ciliary Dysfunction, ACVR2B, AHI1, AIPL1, ARL13B, ARL6, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2orf71, C5orf42 , CC2D2A, CCDC28B, CCDC39, CCDC40, CDH23, CEP290, CEP41, CFTR, CITED2, CLRN1, CRB1, CRELD1, CRX, DFNB31, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, EVC, EVC2, FOXH1, GATA4, GDF1, GLIS2, GPR98, GUCY2D, HYLS1, IFT43, IFT80 , IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIF7, LCA5, LEFTY2, LRAT, MKKS, MKS1, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH4A, RSPH9 , SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SHROOM3, SMAD2, SPATA7, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR35, XPNPEP3, ZIC3
8 weeks
cKIT-GIST (may include exons 9,11,13,17) Mutation Analysis, reflexed to PDGFRA
4199
81272
KIT (cKIT) for Gastrointestinal stromal tumor (GIST) (exons 9, 11, 13, 17) reflexed to PDGFRA
10 - 14 days
CMV Qualitative PCR
3092
87496
CMV by PCR, CMV qual
1 - 3 days
CMV Quantitative PCR
3090
87497
CMV by PCR, CMV quant
1 - 3 days
Comprehensive Arrhythmias Panel
1153
81413
Syncopal Episodes, Torsades de pointes tachyarrythmia, Atrial Fibrillation, Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT, Brugada syndrome, Long QT, Short QT, AKAP9, ANK2, CACNA1C, CACNB2, CALM1, CASQ2 , CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TRDN, TRPM4
8 weeks
Comprehensive Brain Malformations Panel
1095
81302, 81321, 81404x3, 81405x5, 81406x10, 81407x4, 81408, 81479x63
ACTB, ACTG1, AHI1, ARFGEF2, ARL13B, ARX, ASPM, ATR, ATRX, C5ORF42, CASK, CC2D2A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP152, CEP290, CEP41, COL4A1, CUL4B, DCX, DHCR7, DISP1, DLL1, EMX2, EOMES, EXOSC3 , EZH2, FGF8, FKRP, FKTN, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, GPR56, HESX1, IER3IP1, KIAA1279, KIF7, L1CAM, LAMC3, LARGE, MCPH1, MECP2, MED12, MKS1, MRPS16, MYCN, NFIX , NIPBL, NODAL, NPHP1, NSD1, OFD1, OPHN1, OTX2, PAFAH1B1, PCNT, PHF6, PIK3CA, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTEN, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RELN, RPGRIP1L, SHH, SIX3, SLC25A19, SLC9A6 , SOX2, SRPX2, STIL, TCF4, TCTN1, TCTN2, TGIF1, TMEM138, TMEM216, TMEM237, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, UBE3A, UPF3B, VLDLR, VRK1, WDR62, ZEB2, ZIC2
8 weeks
Comprehensive Cardiomyopathy Panel
1151
81439
Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, ARVC, LVNC, CPVT, Restrictive Cardiomyopathy, Noonan, Familial Aneurysm and Aortopathy, Fabry, Long / Short QT, Brugada Syndrome, ABCC9, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, CBL, CBS, COL5A1, COL5A2, COX15, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, FXN, GAA, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K2, MED12, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NRAS, OBSCN, PDLIM3, PKP2, PLN, PLOD1, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SCO2, SGCD, SHOC2, SKI, SLC2A10, SMAD3, SNTA1, SOS1, SPRED1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL
Eight Weeks
Comprehensive Neuromuscular Panel
1575
81161, 81404x5, 81405x12, 81406x13, 81407x4, 81408x6, 81479x45
Neuromuscular disorders, Congenital muscular dystrophy, Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy, ACTA1, AMPD1, ANO5, BAG3, BIN1, BSCL2, CAPN3, CAV3, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL6A1, COL6A2, COL6A3, COLQ, CRYAB, DAG1, DES , DMD, DNM2, DOK7, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLE1, GNE, IGHMBP2, ISPD, ITGA7, LAMA2, LARGE, LDB3, LMNA, MTM1, MTMR14, MUSK, MYH2, MYH7, MYOT, NEB, PABPN1, PLEC, PLEKHG5 , PMM2, POMGNT1, POMT1, POMT2, PTRF, PYGM, RAPSN, RYR1, RYR2, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SYNE1, SYNE2, TCAP, TNNI2, TNNT1, TPM2, TPM3, TRIM32, TTN, VCP, VRK1
8 weeks
Congenital Disorders on Glycosylation Panel
1475
81405, 81406, 81479x32
CDG, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8 , DDOST, DOLK, DPAGT1, DPM1, DPM3, GNE, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1, SRD5A3, TMEM165, TUSC3
8 weeks
Congenital Muscular Dystrophy Panel
1285
81404, 81405x2 , 81406x5, 81407x3, 81408x2, 81479x8
Neuromuscular disorders, Dystroglycanopathies, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKRP, FKTN , ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMT1, POMT2, RYR1, SEPN1, TCAP
8 weeks
Congenital Muscular Myopathy Panel
1293
81405, 81406, 81407, 81408x2, 81479x11
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
81405x2, 81406, 81407, 81408x3, 81479x24
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
81404, 81405x2, 81408, 81479x19
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, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, IL11RA, MASP1, MSX2, POR, RAB23, RECQL4, SKI, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35
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
Sequencing for Known Mutations, Familial Mutation, Familial Variant
14 - 21 Days
CYP2C19, Genotyping
1155
81225
Plavix, 2C19, Clopidogrel, Cytochrome P450
7-10 days
CYP2D6 Genotyping
1200
81226
2D6, Tamoxifen, Codeine, Tricyclic Antidepressants, Cytochrome P450
7 - 10 days
Cystic Fibrosis, CFTR, Deletion/Duplication
1226
81222
CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane, conductance regulator
14 – 21 Days
Cystic Fibrosis, CFTR, Screening
1220
81220
CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane conductance regulator, CF carrier screening
7-10 days
Cystic Fibrosis, CFTR, Sequencing
1222
81223
CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane conductance regulator, CF carrier screening
14 – 21 Days
Cystic Fibrosis, CFTR, Sequencing and Deletion/Duplication
1224
81222, 81223
CF, CFTR-Related CBAVD, CFTR-Related Disorders, Cystic fibrosis transmembrane conductance regulator, CF carrier screening
14 – 21 Days
Dementia Panel
1250
81403, 81404, 81405x2, 81406x8, 81479x9
Alzheimer, Early onset Alzheimer, ALS2, ANG, APOE, APP, C9ORF72, CHMP2B, CSF1R, DCTN1, FIG4 , FUS, GRN, MAPT, OPTN, PRNP, PSEN1, PSEN2, SETX, SORL1, TARDBP, TREM2, VCP
8 weeks
Diffuse Large B-Cell Lymphoma (DLBCL) FISH Panel
7450
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
1260
81439
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, RAF1, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TPM1, TTN, TXNRD2, VCL
Eight Weeks
DNA Banking Services
1300
83890
DNA Storage, DNA Banking, DNA Storage for Future Testing
Not Applicable
Duchenne/Becker Muscular Dystrophy, DMD/BMD, Deletion/Duplication
1280
81161
Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, DMD, BMD, Dystrophin
7 – 14 Days
Dyslipidemia Panel
1287
81479X2
HMGCR, NPC1L1
8 weeks
Dystonia Panel
1295
81321, 81404x5, 81405x8, 81406x11, 81407, 81408, 81479x50
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, PLP1, PNKD, PRRT2, PSEN1, PTEN, PTS , QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHAF1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC46A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREM2, TREX1, VPS13A, WDR45
8 weeks
EGFR FISH
8180
88271, 88275, 88368 (FFPE)
EGFR FISH
5-10 days: Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number and type of tests performed.
EGFR Mutation Analysis
4360
81235, 81479
EGFR, EGFR Gene Mutation (Exons 18, 19, 20 & 21)
10-14 days
Engraftment (Chimerism) Analysis for Allogeneic Hematopoietic Stem Cell
4380 (Donor Pre-Transplant), 4382 (Recipient Pre-Transplant), 4388 (Post Transplant Chimerism), 4390 (Sorted Cell Chimerism)
81267 (for 4388), 81260 (for 4390), 81265 (added first time 4388 or 4390 is performed)
Pretransplant DNA storage, Post-transplant DNA for engraftment study, DNA from sorted cells for chimerism study
7-10 days
Epilepsy/Seizures panel
1291
81302, 81404x9, 81405x7, 81406x10, 81407x5, 81408, 81479x66
Infantile Epilepsy, Childhood Epilepsy, ABAT, ADSL, ALDH5A1, ALDH7A1, AMT, ARHGEF9, ARX, ASPM, ATP1A2, BTD, CACNA1A, CACNB4, CASK, CASR, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, DCX, DNAJC5, EFHC1, EPM2A , FLNA, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GCH1, GLDC, GOSR2, GPR56, GPR98, GRIN2A, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCTD7, LGI1, LIAS, MAGI2, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MMACHC, MTHFR, NHLRC1, NRXN1, OPHN1, PAFAH1B1, PCBD1, PHGDH, PLCB1, PNKP , PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSPH, PTS, QDPR, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, SYN1, TBC1D24, TCF4, TPP1, TSC1, TSC2, TSEN54, UBE3A, WDR45, WDR62, ZEB2
8 weeks
Epstein-Barr Virus Quantitative PCR
3180
87799
EBV, EBV PCR/Quant, Infectious mononucleosis, Post transplant lymphoproliferative disorder (PTLD)
1-3 days
Erythrocytosis Panel
4375
81270, 81403
JAK2 V617F, JAK2 Exon 12
7-14 days
Exome Deletion/Duplication - Proband
2875
81228
Medical Exome Array: Deletion/Duplication Analysis
8 weeks
Exome Sequencing - Proband
2800
81415
Clinical Exome, Medical Exome, Targeted Exome, Exome Sequencing
Approximately 20 weeks
Exome Sequencing - Trio
2890
81415, 81416x2
Whole Exome, Clinical exome, Medical exome, Targeted exome, Exome sequencing and trio analysis
Approximately 20 weeks
Exome Sequencing and Deletion/Duplication - Proband
2825
81415, 81228
Next Generation Sequencing plus array
Approximately 20 weeks
Exome Sequencing and Deletion/Duplication - Trio
2850
81228, 81415, 81416x2
Whole Exome, Clinical Exome, Medical Exome, Targeted Exome, Exome sequencing and trio analysis
Approximately 20 weeks
Exon-Centric Deletion/Duplication Anaylsis
1340
81228
Exon-centric microarray, Cardiomyopathy, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Noonan Syndrome, Hearing Loss, Autism, Inherited Cancer
8 weeks
Exon-Centric Microarray to Accompany NGS Panels
1340
81228
Exon-centric microarray, Cardiomyopathy, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Noonan Syndrome, Hearing Loss, Autism, Inherited Cancer
8 weeks
Fabry Disease
1390
81405
GLA
8 weeks
Factor V (Leiden) Mutation (R506Q)
1420
81241
Factor V Leiden, Hereditary Resistance Activated Protein C Resistance, Resistance to Activated Protein C, Activated protein C resistance, APC resistance, Factor V R506Q, FCV
7 – 10 Days
Familial Adenomatous Polyposis (FAP), APC Deletion/Duplication
1444
81203
APC deletion/duplication
14 - 21 days
Familial Adenomatous Polyposis (FAP), APC Sequencing
1442
81201
APC full gene sequencing , Familial Adenomatous Polyposis (FAP) sequencing
14 - 21 days
Familial Adenomatous Polyposis (FAP), APC Sequencing & Deletion/Duplication
1440
81201, 81203
APC full gene sequencing, Familial Adenomatous Polyposis (FAP) sequencing, APC deletion/duplication
14 - 21 days
Familial Aneurysm and Aortopathy
1445
81405x2, 81406, 81407, 81408x3, 81479x24
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD), Marfan Syndrome, Loeys-Dietz Syndrome (LDS), Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Connective Tissue Disorders, ACTA2, ADAMTS2, B3GALT6, B4GALT7, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1 , FBN2, FKBP14, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
8 weeks
Fanconi Anemia FISH Panel
7210
88271x6, 88275x6
Fanconi FISH, FA-FISH
5-10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Fanconi Anemia Panel
1460
81479x17
Fanconi Anemia sequencing panel, Fanconi Anemia NGS, FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, BLM, RAD51
Eight Weeks
Fanconi Anemia, group A, FANCA, Deletion/Duplication Analysis
1451
81479
FANCA MLPA, FA Complementation Group A, Fanconi A, Fanconi Group A, FANC A Deletion, Duplication
14 – 21 Days
Fanconi Anemia, group A, FANCA, Sequencing
1448
81479
FA Complementation Group A, Fanconi Sequencing
14-21 days
Fanconi Anemia, group A, FANCA, Sequencing and Deletion/Duplication
1450
81479
FANCA Comprehensive Analysis, FA Complementation Group A, Fanconi Anemia, Fanconi Group A, Fanconi Sequencing, FANCA
14 – 21 Days
Fanconi Anemia, group C, FANCC, Sequencing
1452
81479
FA Complementation Group C, Fanconi Anemia, Fanconi Group C, Fanconi Sequencing, FANCC
14 – 21 Days
Fanconi Anemia, group E, FANCE, Sequencing
1454
81479
FA Complementation Group E, Fanconi Anemia, Fanconi Group E, Fanconi Sequencing, FANCE
14 – 21 Days
Fanconi Anemia, group F, FANCF, Sequencing
1456
81479
FA Complementation Group F, Fanconi Anemia, Fanconi Group F, Fanconi Sequencing, FANCF
14 – 21 Days
Fanconi Anemia, group G, FANCG, Sequencing
1458
81479
FA Complementation Group G, Fanconi Anemia, Fanconi Group G, Fanconi Sequencing, FANCG
14 – 21 Days
Fatty Acid Hydroxylase-Associated Neurodegeneration (FAHN), FA2H, Sequencing
1400
81479
FAHN, FA2H, NBIA
14 – 21 Days
Fatty Acid Oxidation Deficiency Panel
1405
81405x3, 81406x5, 81479x14
ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH , GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, SLC22A5, SLC25A20, TAZ
8 weeks
FGFR1 FISH
8218
88271, 88275, 88368 (FFPE)
FGFR1 FISH, fibroblast growth factor receptor 1 FISH
3 - 7 days
FISH Library - Constitutional
7300
88271, 88275
AneuVysion (chromosomes 13, 18, 21, X and Y), Angelman Syndrome (SNRPN/D15S10) (15q11-13), CEP X and CEP Y , Cri-du-chat (5p-) Syndrome (5p15.2), DiGeorge Syndrome (DGS) (TUPLE1) (22q11.2) , Kallman Syndrome (KAL) (Xp22.3) , Miller-Dieker Syndrome (LIS1) (17p13.3) , Prader-Willi Syndrome (SNRPN/D15S10) (15q11-13), SHOX-related haploinsufficiency disorders (SHOX) (Xp22.33), Smith-Magenis Syndrome (SMS) (17p11.2) , SNRPN Dup(15) in autism, SRY-related disorders of sex development (SRY) (Yp11.3) , Steroid Sulfatase (STS) (Xp22.3), Velocardiofacial Syndrome (VCFS) (TUPLE1) (22q11.2) , Williams Syndrome (ELN) (7q11.23) , Wolf-Hirshhorn (4p-) Syndrome (WHS) (4p16.3)
3-7 days* *TAT may be extended if part of a chromosome study
FISH Library - Oncology
7400
88368
ALL, AML, CLL, DLBCL, FA, Glioma, HES, MDS, MM, MZL, NSCLC, 1p/19q glioma, 1p36 neuroblastoma, 4/10/17 ALL, 5/9/15 MM, 8 centromere, 12 centromere, ALK , ATM , BCL2 break-apart, BCL6 , BCR/ABL+/- ASS t(9;22), BIRC3(API2)/MALT1 t(11;18) , BRAF , CBFB inv(16) , CCND1 break-apart, CDKN2A (p16), CHIC2 , CHOP , CKS1B/CDKN2C MM, COL1A1/PDGFB (DFSP) t(17;22), CSF1R , D13S319/13q34 , D20S108 , D7S486 , DEK/NUP214 t(6;9) , E2A , EGFR , EGR1 , ETV6 (TEL) break-apart, ETV6/RUNX1 (TEL/AML) t(12;21), EVI1 , EWSR1 , FGFR1 , FOX01 , FUS , HER-2/neu , IGH break-apart, IGH/BCL2 t(14;18), IGH/CCND1 t(11;14), IGH/FGFR3 t(4;14), IGH/MAF t(14;16), IGH/MALT1 t(14;18), IGH/MYC t(8;14), MALT1 break-apart, MDM2, MET, MLL, MYB, MYC break-apart, N-MYC , P53 , PDGFRB , PML/RARA t(15;17), PTEN , RB1/D13S319, RET , ROS1 , RUNX1T1/RUNX1 (ETO/AML) t(8;21), SS18 (SYT) , TRAD (TCR) , 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 ITD
7-10 days
FMR1-Related Primary Ovarian Insufficiency (POI)
1482
81423, 81244 (if expansion is found)
FMR1-Related Disorders , FMR1
7-10 days
Fragile X Syndrome
1480
81243, 81244 (if expansion is found)
FMR1-Related Disorders , Frax A Mental Retardation
7-10 days
Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
1481
81243, 81244 (if expansion is found)
FMR1-Related Disorders , FXTAS Fragile X Tremor Ataxia Syndrome
7-10 days
GeneTrails Colorectal Cancer Mutation Panel
4224
81210 (BRAF), 81275, 81403 (KRAS), 81404 (NRAS)
Colon Cancer Panel, BRAF, KRAS, NRAS
10-14 days
GeneTrails Comprehensive Solid Tumor Panel
5440
81445
Solid Tumor Panel Version 2, AKT1, AKT2, AKT3, ALK, APC, AR, ARAF, ARID1A, ATM, ATR, BAP1, BARD1, BRAF, BRCA1, BRCA2, BRIP1, CASP8, CCND1, CCNE1, CD274, CDK12, CDKN1B, CDKN2A, CHK1, CHK2, CTNNB1, DDR2, DDX11, EGFR, ERBB2, ERBB3, ERBB4, ERCC2, ERCC5, ESR1, FAM175A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCM, FGF18, FGF19, FGF3, FGF4, FGFR1, FGFR2, FGFR3, FGFR4, GNA11, GNAQ, GNAS, HIST1H3B, HRAS, IDH1, IDH2, IDO1, IDO2, INPP4B, JAK2, KDR, KIT, KRAS, MAP2K1, MAP2K2, MAP2K4, MAPK1, MDC1, MDM2, MDM4, MET, MLH1, MLH3, MRE11A, MSH2, MSH6, MTOR, MUTYH, MYC, NBN, NF1, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PDCD1LG2, PDGFRA, PIK3CA, PIK3CB, PIK3R1, PMS1, PMS2, POLE, PPP2R1A, PPP6C, PTCH1, PTEN, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RASA1, RB1, RET, RICTOR, RIT1, ROS1, RPTOR, STAG2, STAT3, STK11, TOP1, TP53, TSC1, TSC2, XRCC1
14 days
GeneTrails GIST Genotyping Panel
4500
81450
GIST Cancer Gene Panel, AmpliSeq GIST Panel, Ion Torrent GIST Panel, AKT1, AKT2, AKT3, ATM, BRAF, CDKN2A, HRAS, KIT, KRAS, MAP2K1, NF1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, TP53
10 - 14 days
GeneTrails Hematologic Malignancies 76 Gene Panel
4600
81455
Heme Malignancies Panel , Leukemia Panel , AmpliSeq AML Panel , Ion Torrent , Next Gen Sequencing Heme Malignancies Panel , Next Gen Sequencing Leukemia Panel , ABL , ATM , ASXL1 , BCL2 , BCL6 , BCOR , BIRC3 , BRAF , CALR, CARD11 , CBL , CBL-B , CCND1 , C79B , CDKN2A , CEBPA , CREBBP , CSF3R , DNMT3A , EP300 , ETV6 , EZH2, FAM5C , FBXW7 , FLT3 , FOXO1, GNA13 , GATA1 , GATA2 , HNRNPK , HRAS , IDH1 , IDH2 , ID3 , IKZF1 , IL7R , JAK1, JAK2 , JAK3 , KDM6A/UTX , KIT , KRAS , MEF2B, MLL, MLL2, MPL , MYC, MYD88, NOTCH1 , NOTCH2, NPM1, NRAS, PAX5, PHF6, PRDM1, PTEN, PTPN11 (SHP2), RAD21, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SOCS1, SRSF2, STAG2, STAT3, SUZ12, TCF3, TET2, TNFAIP3, TNFRSF14 , TP53, U2AF35 (U2AF1), WT1, ZRSR2
10 - 14 days
GeneTrails NSCLC Genotyping Panel
5120 (Sequencing), 7600 (FISH Panel), 81445
81450
Lung Cancer Panel, AmpliSeq NSCLC Panel, Ion Torrent Lung Panel, AKT1, ALK, BRAF, CDKN2A, DDR2, EGFR, ERBB2, HRAS, JAK2, KDR, KRAS, MAP2K1, NOTCH1, NRAS, NTRK1, NTRK2, NTRK3, PIK3CA, PIK3R1, PIK3R2, PTEN, PTPRD, TP53, ROS1, RET, MET
Sequencing: 10 - 14 days, FISH: 3 - 7 days
GeneTrails Solid Tumor Fusion Gene Panel
4480
81445
Fusion gene, Gene fusion, ALK, ROS1
14-17 calendar days
Glioma FISH Panel
7270
88368x1 (FFPE Only), 88369x3 (FFPE Only)
Glioma FISH
5–10 days Contact Lab at 855-KDL-1LAB (535-1522) - Time varies depending on number of tests performed.
Glioma Microarray – Targeted Region Panel
6515
81406
Glioma array, Glioma copy number analysis, Glioma gene/targeted region
7-12 Days - Contact Lab at 855-KDL-1LAb (535-1522)
Gluconeogenesis Disorders Panel
1465
81406, 81479
Intrahepatic cholestasis, Citrin deficiency, Alagille syndrome, ALDOB, FBP1, GYS2, PC
8 weeks
GNAQ and GNA11 Mutation Analysis
4525
81479, 81403
GNAQ, GNA11, melanoma, choroid, uveal
10 - 14 days
H3F3A Mutation Analysis
4810