Comprehensive suit of Precision Disease Diagnostic testing
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Comprehensive suit of Precision Disease Diagnostic testing FAMILY: PRECISION DISEASE DIAGNOSTIC PRODUCT CATEGORY: PRECISION PANELS Cardiology Connective Tissue Disorders Dermatology Endocrinology ENT Gastroenterology Haematology NGS NGS NGS NGS NGS NGS NGS NGS NGS NGS NGS NGS MLPA MLPA NGS NGS NGS NGS NGS NGS & MLPA NGS NGS NGS NGS NGS NGS NGS NGS Fragment analysis NGS NGS NGS MLPA NGS NGS NGS NGS PCR NGS NGS MLPA Sanger Cardiomyopathy gene panel Cardiac Channelopathy gene panel Ehlers-Danlos syndrome gene panel Marfan syndrome Cutis Laxa gene panel Connective tissue disorder gene panel Ectodermal dysplasia gene panel Epidermolysis bullosa gene panel Ichthyosis gene panel Oculocutaneous albinism gene panel Xeroderma pigmentosum gene panel Tuberous Sclerosis (TSC1 & TSC2) gene panel TSC1 deletion/duplication TSC2 deletion/duplication Monogenic and syndromic obesity gene panel Hyperlipidemia gene panel Maturity-onset diabetes of the young (MODY) & neonatal diabetes gene panel Disorders of Sex Development (Abnormal Genitalia) Panel Hereditary pancreatitis gene panel "Congenital adrenal hyperplasia CYP21A2 (21-0H) NGS and deletion/duplication analysis" Deafness (syndromic & non-sydromic) gene panel Waardenburg syndrome gene panel Usher syndrome gene panel Hereditary Hemorrhagic Telangiectasia Broncio-Oto-Renal syndrome panel Alagille syndrome gene panel Congenital hepatic fibrosis gene panel Gilbert or Crigler-Najjar syndrome (UGT1A1) gene analysis (only point mutations) UGT1A1 - repeat analysis Hemochromatosis gene panel Progressive familial intrahepatic cholestasis gene panel Wilson disease (ATP7B) gene analysis ATP7B deletion/duplication Congenital afibrinogenemia gene panel Bone marrow failure syndrome gene panel Anemia gene panel Haemophilia (F8 & F9) gene panel F8 intron 22 inversion Hemophagocytic lymphohistiocytosis (HLH) gene panel Beta-thalassemia (HBB) gene analysis HBB deletion/duplication Alpha-thalassemia (HBA1/2) gene analaysis Product Name Technology Panels
Transcript of Comprehensive suit of Precision Disease Diagnostic testing
Comprehensive suit ofPrecision Disease Diagnostic testing
FAMILY: PRECISION DISEASE DIAGNOSTICPRODUCT CATEGORY: PRECISION PANELS
Cardiology
ConnectiveTissue Disorders
Dermatology
Endocrinology
ENT
Gastroenterology
Haematology
NGSNGS
NGSNGSNGSNGS
NGSNGSNGSNGSNGSNGSMLPAMLPA
NGSNGSNGS
NGSNGSNGS & MLPA
NGSNGSNGSNGSNGS
NGSNGSNGS
Fragment analysisNGSNGSNGSMLPA
NGSNGSNGSNGSPCRNGSNGSMLPASanger
Cardiomyopathy gene panelCardiac Channelopathy gene panel
Ehlers-Danlos syndrome gene panelMarfan syndromeCutis Laxa gene panelConnective tissue disorder gene panel
Ectodermal dysplasia gene panelEpidermolysis bullosa gene panelIchthyosis gene panelOculocutaneous albinism gene panelXeroderma pigmentosum gene panelTuberous Sclerosis (TSC1 & TSC2) gene panelTSC1 deletion/duplicationTSC2 deletion/duplication
Monogenic and syndromic obesity gene panelHyperlipidemia gene panelMaturity-onset diabetes of the young (MODY) & neonatal diabetes gene panelDisorders of Sex Development (Abnormal Genitalia) PanelHereditary pancreatitis gene panel"Congenital adrenal hyperplasia CYP21A2(21-0H) NGS and deletion/duplication analysis"
Deafness (syndromic & non-sydromic) gene panelWaardenburg syndrome gene panelUsher syndrome gene panelHereditary Hemorrhagic TelangiectasiaBroncio-Oto-Renal syndrome panel
Alagille syndrome gene panelCongenital hepatic fibrosis gene panelGilbert or Crigler-Najjar syndrome (UGT1A1) gene analysis (only point mutations)UGT1A1 - repeat analysisHemochromatosis gene panelProgressive familial intrahepatic cholestasis gene panelWilson disease (ATP7B) gene analysisATP7B deletion/duplication
Congenital afibrinogenemia gene panelBone marrow failure syndrome gene panelAnemia gene panelHaemophilia (F8 & F9) gene panel F8 intron 22 inversionHemophagocytic lymphohistiocytosis (HLH) gene panelBeta-thalassemia (HBB) gene analysisHBB deletion/duplicationAlpha-thalassemia (HBA1/2) gene analaysis
Product Name TechnologyPanels
Comprehensive suit ofPrecision Disease Diagnostic testing
FAMILY: PRECISION DISEASE DIAGNOSTICPRODUCT CATEGORY: PRECISION PANELS
Immunology
MetabolicDisorders
Nephrology
Neurology
NeurologyEpilepsy
NeurologyMovementDisorders
NeurologyNeurodegenerative
Product Name
MLPANGSNGSNGS
MLPANGSNGS
NGSNGSNGSNGSNGSNGSNGSNGSMLPA
NGSNGS
NGSNGSNGSNGSNGSNGSNGS
NGSNGS
NGSNGSNGS
NGSMLPANGSNGSNGSNGSNGSMLPAMLPA
NGSNGSNGSNGS
HBA1 & HBA2 deletion/duplicationVon Willebrand disease (VWF) gene analysisThrombocytopenia gene panelThrombophilia gene panel
IKBKG deletion/duplication analysisPrimary immunodeficiency gene panelSevere combined immunodeficiency gene panel
Fatty acid oxidation disorders gene panelGlycine encephalopathy gene panelGlycogen storage disorder gene panelGlycosylation (CDG) disorders gene panelMethylmalonic aciduria gene panelOrganic acidemia gene panelInborn Errors of Metabolic (IEM) disorder gene panelLeigh syndrome & mitochondrial encephalopathy gene panelOrnithine transcarbamylase deficiency (OTC) deletion/duplication analysisLysosomal storage disorder gene panelUrea cycle defects gene panel
Alport syndrome gene panelBartter syndrome gene panelMeckel Gruber syndrome gene panelNephrotic syndrome gene panelPolycystic kidney disease gene panelPrimary hyperoxaluria gene panelPrimary ciliary diskinesia gene panel
Comprehensive neurology panelNeuronal migration disorder gene panel
Aicardi-Goutieres syndrome gene panelComprehensive epilepsy gene panelRett syndrome gene panel
Ataxia-telangiectasia (ATM) gene analysisAtaxia-telangiectasia (ATM) deletion/duplicationDystonia gene panelEarly-onset juvenile parkinsonism gene panelHereditary spastic paraplegia gene panelHyperekplexia gene panelNeurofibromatosis (NF1 and NF2) gene analysisNeurofibromatosis type 1 (NF1) deletion/duplicationNeurofibromatosis type 2 (NF2) deletion/duplication
Adrenoleukodystrophy (ABCD1) gene analysisJoubert syndrome gene panelLeukodystrophy gene panelMetachromatic leukodystrophy gene panel
TechnologyPanels
Comprehensive suit ofPrecision Disease Diagnostic testing
FAMILY: PRECISION DISEASE DIAGNOSTICPRODUCT CATEGORY: PRECISION PANELS
NeurologyNeuromuscular
Ophthalmology
Rare disorders
Skeletaldisorders
Hereditary Cancer panelNew born genetic screening panel
Product Name
NGSMLPA
MLPA
NGSNGSNGSNGSMLPANGSMLPASangerMLPA
NGSNGSNGSNGSNGSNGS
NGSNGSNGSNGSMLPANGSMS-MLPANGS
NGSNGSNGS
NGSNGS
Neurodegeneration with brain iron accumulation (NBIA) gene panelNeurodegenration with brain iron accumulation 2B (PLA2G6) deletion/duplication analysisPantothenate kinase-associated degeneration (PANK2) deletion/duplication analysis
Arthrogryposis & congenital myasthenic syndrome gene panelCharcot-Marie-Tooth and sensory neuropathies gene panelMuscular dystrophy & congenital myopathy gene panelDuchenne muscular dystrophy (DMD) gene analysisDuchenne Muscular Dystrophy (DMD) deletion/duplicationMyotonia congenita gene panelPMP22 deletion/duplication analysisSpinal Muscular Atrophy (SMN1) gene analysisSpinal Muscular Atrophy (SMN1/SMN2) deletion/duplication
Leber congenital amaurosis gene panelOptic atrophy gene panelRetinal degeneration gene panelCongenital cataract gene panelCone-rod dystrophy gene panelRetinitis Pigmentosa gene panel
Bardet-Biedl syndrome gene panelCornelia de Lange syndrome gene panelDiGeorge syndrome deletion/duplication analysisCystic Fibrosis (CFTR) gene analysisCystic fibrosis (CFTR) gene deletion/duplicationNoonan syndrome gene panelPrader-Willi/Angelman syndrome deletion/duplicationStickler syndrome panel
Skeletal dysplasia gene panelOsteogenesis imperfecta gene panelOsteopetrosis gene panel
TechnologyPanels
