DNA Plates and Panels
 
Catalog IDProductDescription
BC01gene mutation panel
10 µg/sample
BREAST CANCER INFORMATION CORE (BIC) BRCA1/BRCA2 MUTATION PANEL DNA SAMPLES
MUTCF-2gene mutation panel
10 µg/sample
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
MUTTHROMgene mutation panel
10 µg/sample
HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS
MUTHEMOgene mutation panel
10 µg/sample
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
 
Samples with Characterized Mutations
 
DiseaseView Samples
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFRView
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA View
ACHONDROPLASIA; ACHView
ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OFView
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OFView
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OFView
ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSBView
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OFView
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDEDView
ADENOMATOUS POLYPOSIS OF THE COLON; APCView
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCYView
ADRENAL HYPOPLASIA, CONGENITAL; AHCView
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORMView
ADRENOLEUKODYSTROPHY; ALDView
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1AView
ALBUMIN; ALB DYSALBUMINEMIC HYPERTHYROXINEMIA, INCLUDEDView
ALEXANDER DISEASEView
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSISView
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1View
ARGININEMIAView
ARGININOSUCCINIC ACIDURIAView
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCYView
ASPARTYLGLUCOSAMINURIAView
ATAXIA-TELANGIECTASIA; ATView
ATRANSFERRINEMIAView
BARTH SYNDROME; BTHSView
BETHLEM MYOPATHYView
BLOOM SYNDROME; BLMView
BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMRView
BREAST CANCER 2, EARLY-ONSET; BRCA2View
BREAST CANCER, TYPE 1; BRCA1View
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTKView
CANAVAN DISEASEView
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCYView
CARBOXYPEPTIDASE N DEFICIENCYView
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSPView
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSETView
CENTRAL CORE DISEASE OF MUSCLEView
CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4View
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1View
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2View
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3View
CHARCOT-MARIE-TOOTH DISEASE 1B; CMT1BView
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2DView
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1AView
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4CView
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1View
CHERUBISMView
CHOROIDEREMIA; CHMView
CITRULLINEMIA, CLASSICView
CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1View
COAGULATION FACTOR II; F2View
COCKAYNE SYNDROME, TYPE B; CSBView
CODAS SYNDROMEView
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IaView
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IcView
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IdView
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IeView
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IfView
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IgView
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IjView
CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCAView
CORNELIA DE LANGE SYNDROME 1; CDLS1View
COWDEN DISEASE; CDView
CRIGLER-NAJJAR SYNDROMEView
CYSTATHIONINURIAView
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTRView
CYSTIC FIBROSIS; CFView
CYSTINOSIS, ADULT NONNEPHROPATHICView
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPEView
CYSTINOSIS, NEPHROPATHIC; CTNSView
CYSTINURIA; CSNUView
DE SANCTIS-CACCHIONE SYNDROMEView
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1AView
DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28View
DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39View
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49View
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLAView
DYGGVE-MELCHIOR-CLAUSEN DISEASEView
DYSKERATOSIS CONGENITA, X-LINKED; DKCView
DYSTROPHIA MYOTONICA 1; DM1View
EHLERS-DANLOS SYNDROME, TYPE I; EDS1View
EHLERS-DANLOS SYNDROME, TYPE II; EDS2View
EHLERS-DANLOS SYNDROME, TYPE VIView
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPEView
EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1View
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2View
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONSView
FABRY DISEASEView
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1View
FACTOR V DEFICIENCYView
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCCView
FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2View
FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCFView
FARBER LIPOGRANULOMATOSISView
FRAGILE X MENTAL RETARDATION SYNDROMEView
FRIEDREICH ATAXIA 1; FRDAView
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCYView
GALACTOSEMIAView
GAUCHER DISEASE, TYPE IView
GAUCHER DISEASE, TYPE IIView
GAUCHER DISEASE, TYPE IIIView
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PDView
GLUTARICACIDEMIA IView
GLYCOGEN STORAGE DISEASE IView
GLYCOGEN STORAGE DISEASE IIView
GLYCOGEN STORAGE DISEASE VView
GROWTH HORMONE INSENSITIVITY SYNDROMEView
GYRATE ATROPHY OF CHOROID AND RETINA; GACRView
HARTNUP DISORDERView
HEMOCHROMATOSIS, NEONATALView
HEMOCHROMATOSIS; HFEView
HEMOGLOBIN--ALPHA LOCUS 1; HBA1View
HEMOGLOBIN--BETA LOCUS; HBBView
HEMOPHILIA B; HEMBView
HERMANSKY-PUDLAK SYNDROME 2; HPS2View
HERMANSKY-PUDLAK SYNDROME; HPSView
HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880View
HOLOCARBOXYLASE SYNTHETASE DEFICIENCYView
HUNTINGTON DISEASE; HDView
HURLER SYNDROMEView
HURLER-SCHEIE SYNDROMEView
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPSView
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARHView
HYPERCHOLESTEROLEMIA, FAMILIAL; FHCView
HYPERGLYCEROLEMIAView
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTASView
HYPOCHONDROPLASIA; HCHView
HYPOPHOSPHATASIA, INFANTILEView
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANTView
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROMEView
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFDView
INOSINE TRIPHOSPHATASE; ITPAView
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCYView
KRABBE DISEASEView
LANGER MESOMELIC DYSPLASIAView
LEBER OPTIC ATROPHYView
LEIGH SYNDROMEView
LEPRECHAUNISMView
LESCH-NYHAN SYNDROME; LNSView
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED)View
LIG4 SYNDROMEView
LIGASE I, DNA, ATP-DEPENDENT; LIG1View
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCYView
LOWE OCULOCEREBRORENAL SYNDROME; OCRLView
MACHADO-JOSEPH DISEASE; MJDView
MANNOSIDOSIS, ALPHA B, LYSOSOMALView
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IAView
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IIView
MARFAN SYNDROME; MFSView
MARSHALL SYNDROMEView
MATURITY ONSET DIABETES OF THE YOUNG, TYPE II; MODY2View
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1View
MEDITERRANEAN FEVER, FAMILIAL; MEFVView
MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2View
MENKES SYNDROMEView
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1View
MICROCEPHALY WITH CHORIORETINOPATHYView
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVAView
MUCOLIPIDOSIS II; ML2; ML IIView
MUCOLIPIDOSIS III, COMPLEMENTATION GROUP CView
MUCOLIPIDOSIS IIIAView
MUCOLIPIDOSIS IVView
MUCOPOLYSACCHARIDOSIS TYPE IIView
MUCOPOLYSACCHARIDOSIS TYPE IIIAView
MUCOPOLYSACCHARIDOSIS TYPE IIIBView
MUCOPOLYSACCHARIDOSIS TYPE IIIDView
MUCOPOLYSACCHARIDOSIS TYPE IVBView
MUCOPOLYSACCHARIDOSIS TYPE VIIView
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1View
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2View
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2BView
MUSCULAR DYSTROPHY, BECKER TYPE; BMDView
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1AView
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMDView
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2AView
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2BView
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)View
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3View
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED)View
MYHRE SYNDROME; MYHRSView
MYOCLONIC EPILEPSY OF LAFORAView
MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERFFView
MYOPATHY, CENTRONUCLEAR, 1; CNM1View
MYOTUBULAR MYOPATHY 1; MTM1View
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS DEFICIENCYView
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2View
NEMALINE MYOPATHY 3; NEM3View
NEMALINE MYOPATHY, AMISH TYPE; ANMView
NEUROFIBROMATOSIS, TYPE I; NF1View
NEUROFIBROMATOSIS, TYPE II; NF2View
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3View
NIEMANN-PICK DISEASE, TYPE AView
NIEMANN-PICK DISEASE, TYPE BView
NIEMANN-PICK DISEASE, TYPE C1; NPC1View
NIEMANN-PICK DISEASE, TYPE C2View
NIJMEGEN BREAKAGE SYNDROMEView
NORRIE DISEASE; NDP - 310600View
OCULOPHARARYNGEAL MUSCULAR DYSTROPHY; OPMDView
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTCView
OSTEOGENESIS IMPERFECTA, TYPE IV; OI4View
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDEDView
PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1View
PELIZAEUS-MERZBACHER DISEASE; PMDView
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCYView
PHENYLKETONURIAView
PHOSPHOGLYCERATE KINASE 1; PGK1View
PIEBALD TRAIT; PBTView
PORPHYRIA, ACUTE INTERMITTENTView
POTOCKI-LUPSKI SYNDROME; PTLSView
PRADER-WILLI SYNDROME; PWSView
PROPIONIC ACIDEMIAView
PROTEASE INHIBITOR 1; PIView
PSEUDONEONATAL ADRENOLEUKODYSTROPHYView
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXEView
PYRUVATE DECARBOXYLASE DEFICIENCYView
REFSUM DISEASE, INFANTILE FORMView
RETINITIS PIGMENTOSA - 180100, 268000, OR 312600View
RETINITIS PIGMENTOSA 1; RP1View
RETT SYNDROME; RTTView
RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1View
ROBERTS SYNDROME; RBSView
SALLA DISEASEView
SC PHOCOMELIA SYNDROMEView
SCHEIE SYNDROMEView
SECKEL SYNDROMEView
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCYView
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROMEView
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1View
SJOGREN-LARSSON SYNDROMEView
SMITH-LEMLI-OPITZ SYNDROME; SLOSView
SMITH-MAGENIS SYNDROME; SMSView
SOTOS SYNDROMEView
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1View
SPINAL MUSCULAR ATROPHY I; SMA1View
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2View
SPINOCEREBELLAR ATAXIA 1; SCA1View
STICKLER SYNDROME, TYPE I; STL1View
TAY-SACHS DISEASE, AB VARIANTView
TAY-SACHS DISEASE; TSDView
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHTView
THANATOPHORIC DYSPLASIA; TDView
THROMBOCYTHEMIA, ESSENTIALView
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1View
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDEDView
TRIFUNCTIONAL PROTEIN DEFICIENCYView
TUBEROUS SCLEROSIS 1; TSC1View
TURCOT SYNDROMEView
TYROSINEMIA, TYPE IView
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1View
USHER SYNDROME, TYPE IC; USH1CView
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVDView
VICI SYNDROME; VICISView
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VEDView
WILSON DISEASEView
WISKOTT-ALDRICH SYNDROME; WASView
WOLMAN DISEASEView
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPAView
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPBView
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPCView
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPDView
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP EView
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPFView
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPGView
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPVView
ZELLWEGER SYNDROME; ZSView
 
 
Samples Negative for Mutations
Gene Mutations Screened GM00536 NS01862 GM03469 GM00130 GM07752 GM06160 GM09820
HFE C282Y;
H63D; S65C
WT/WT H63D/WT WT/WT WT/WT C282Y/WT C282Y/WT WT/WT
CFTR Numerous* No mutations detected; 7T/7T No mutations detected; 7T/7T R170H; 7T/7T M470V/M470V;4375-36delT; 7T/7T No mutations detected; 7T/7T No mutations detected; 7T/7T No mutations detected; 7T/7T
HBB Hb S; Hb C Negative (Hb A/A) Negative (Hb A/A) Negative (Hb A/A) Negative (Hb A/A) Negative (Hb A/A) Negative (Hb A/A) Negative (Hb A/A)
F2 G20210A WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT
MTHFR C677T WT/WT WT/WT WT/WT WT/WT WT/WT C677T/WT WT/WT
FVL R506Q WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT
HBA1 SEA deletion;Fil deletion Negative Negative Negative Negative Negative Undetermined abnormality Negative
FMR1 CGG repeat 20 repeats;normal male 24/26 repeats;
normal female
30 repeats;
normal male
30 repeats;
normal male
20 repeats;
normal male
30 repeats;
normal male
36 repeats;
normal male
HD CAG repeats 20/20; normal 16/15; normal 18/17; normal 17/17; normal 20/17; normal 18/16; normal 18/17; normal
Cx26 35delG/WT WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT
FGFR3 P250R WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT WT/WT


*The cell lines were tested for all mutations identified by the Linear Array CF-31 from Roche Diagnostics and the ABI Cystic Fibrosis Assay, plus I148T and S1235R.
The cell lines highlighted in blue could be considered suitable for use as negative controls.