LISTA DE EXAMES

SEQUENCIAMENTO GENÉTICO - NGS
AVALIAÇÃO FARMACOCINÉTICA  DA RESPOSTA DOS 13 MEDICAMENTOS MAIS UTILIZADOS NA PRÁTICA CLÍNICA NO TRATAMENTO DOS TRANSTORNOS DA ANSIEDADE E DO SONO – PAINEL RDO NGS
CÂNCER ABRANGENTE, ANALISE DE 409  GENES  COM COBERTURA DE MAIS DE 50% DOS GENES RECOMENDADOS EM ESTUDO PELO WELLCOME TRUST SANGER INSTITUTE, CAMPUS, HINXTON, CB10 1SA,  INGLATERRA, SEQUENCIAMENTO NGS
CÂNCER DE MAMA, MUTAÇÃO DOS GENES   BRCA-1 e BRCA-2,  SEQUENCIAMENTO NGS
CÂNCER DE PROSTATA AGRESSIVO, ESTUDO DE 4 MARCADORES ( PSA TOTAL, PSA LIVRE, PSA INTACTO E CALICREÍNA HUMANA 2), SEQUENCIAMENTO NGS
CÂNCER GASTROINTESTINAL HEREDITARIO,  AVALIAÇÃO DO, SEQUENCIAMENTO NGS
Solicite orçamento/informação:  contate (11) 3065-0800  ou  atendimento@rdo.med.br
CARIÓTIPO DE MATERIAL FETAL DE PERDA GESTACIONAL E DETECÇÃO DA PRESENÇA DE CONTAMINAÇÃO MATERNA, ANALISE DE 24 CROMOSSOMOS POR  NGS (NEXT GENERATIONSEQUENCING)
Solicite orçamento/informação:  contate (11) 3065-0800  ou  atendimento@rdo.med.br
AVALIAÇÃO FARMACOCINÉTICA  DA RESPOSTA DOS 15 MEDICAMENTOS MAIS UTILIZADOS NA PRÁTICA CLÍNICA NO TRATAMENTO DOS TRANSTORNOS DEPRESSIVOS – PAINEL RDO NGS
TRIAGEM PRÉ IMPLANTACIONAL  POR EMBRIÃO LAUDO/RESULTADO  LIBERADO EM 15 DIAS – PAINEL RDO NGS
TRIAGEM PRÉ IMPLANTACIONAL URGENTE POR EMBRIÃO –  LAUDO/RESULTADO  LIBERADO EM 24 HS – PAINEL RDO  NGS
Solicite orçamento/informação:  contate (11) 3065-0800  ou  atendimento@rdo.med.br
DOENÇAS HEREDITÁRIA E SÍNDROMES ASSOCIADAS – ANÁLISE DE 329 GENES – PAINEL RDO NGS
GENES ANALISADOS
Acidúria Arginino-SuccínicaArgininosuccinate Lyase DeficiencyASL
Acidúria metilmalônicaMethylmalonic AcidemiaMMAA
Acidúria metilmalônicaMethylmalonic AcidemiaMMAB
Acidúria metilmalônicaMethylmalonic AcidemiaMMACHC
Acidúria metilmalônicaMethylmalonic AcidemiaMUT
Adrenoleucodistrofia ligada ao XX-Linked AdrenoleukodystrophyABCD1
Adrenoleucodistrofia neonatalNeonatal AdrenoleucodystrophyPEX5
Agamaglobulinemia ligada ao X tipo 1Agammaglobulinemia, X-Linked, Type 1BTK
Albinismo ocular ligado ao XOcular Albinism, X-LinkedGPR143
Albinismo oculocutâneo tipo 1Oculocutaneous Albinism Type 1TYR
Albinismo oculocutâneo tipo 2Oculocutaneous Albinism Type 2MC1R
Albinismo oculocutâneo tipo 3Oculocutaneous Albinism Type 2OCA2
Alopécia universal congênitaAlopecia Universalis Congenita (ALUNC)HR
Alzheimer familiar precoceEarly-Onset Familial Alzheimer DiseaseAPP
Alzheimer familiar precoceEarly-Onset Familial Alzheimer DiseasePSEN1
Alzheimer familiar precoceEarly-Onset Familial Alzheimer DiseasePSEN2
Amaurose congênita de LeberLeber Congenital AmaurosisAIPL1
Amaurose congênita de LeberLeber Congenital AmaurosisCEP290
Amaurose congênita de LeberLeber Congenital AmaurosisCRB1
Amaurose congênita de LeberLeber Congenital AmaurosisGUCY2D
Amaurose congênita de LeberLeber Congenital AmaurosisIMPDH1
Amaurose congênita de LeberLeber Congenital AmaurosisRDH12
Amaurose congênita de LeberLeber Congenital AmaurosisRPE65
Amaurose congênita de LeberLeber Congenital AmaurosisRPGRIP1
Amiloidose familiar por transtirretinaFamilial Transthyretin AmyloidosisTTR
Anemia de Diamond-BlackfanDiamond-Blackfan AnemiaRPL11
Anemia de Diamond-BlackfanDiamond-Blackfan AnemiaRPL35A
Anemia de Diamond-BlackfanDiamond-Blackfan AnemiaRPS10
Anemia de Diamond-BlackfanDiamond-Blackfan AnemiaRPS19
Anemia de Diamond-BlackfanDiamond-Blackfan AnemiaRPS24
Anemia de Diamond-BlackfanDiamond-Blackfan AnemiaRPS26
Anemia FanconiFanconi AnemiaFANCA
Anemia FanconiFanconi AnemiaFANCC
Anemia FanconiFanconi AnemiaFANCF
Anemia FanconiFanconi AnemiaFANCG
Aneurismas aórticos torácicos e dissecção aórticaThoracic Aortic Aneurysms and Aortic DissectionsACTA2
Aneurismas aórticos torácicos e dissecção aórticaThoracic Aortic Aneurysms and Aortic DissectionsCOL4A1
Aneurismas aórticos torácicos e dissecção aórticaThoracic Aortic Aneurysms and Aortic DissectionsMYH11
Aneurismas aórticos torácicos e dissecção aórticaThoracic Aortic Aneurysms and Aortic DissectionsSMAD3
Aneurismas aórticos torácicos e dissecção aórticaThoracic Aortic Aneurysms and Aortic DissectionsTGFBR1
Aneurismas aórticos torácicos e dissecção aórticaThoracic Aortic Aneurysms and Aortic DissectionsTGFBR2
Angioedema hereditário, tipos 1 e 2Angioedema, Hereditary, Types I and IISERPING1
AniridiaAniridiaPAX6
Ataxia com apraxia oculomotora tipo 2Ataxia with Oculomotor Apraxia Type 2APTX
Ataxia com deficiência de vitamina EAtaxia with Vitamin E DeficiencyTTPA
Ataxia de FriedreichFriedreich AtaxiaFXN
Ataxia espinocerebelar 1Spinocerebellar Ataxia 1ATXN1
Ataxia espinocerebelar 2Spinocerebellar Ataxia 2ATXN2
Ataxia espinocerebelar 7Spinocerebellar Ataxia 7ATXN7
Ataxia TeleangiectasiaAtaxia-TelangiectasiaATM
BraquidactiliaBrachydactylyGDF5
Braquidactilia tipo B1Brachydactyly, Type B1ROR2
Cardiomiopatia dilatadaDilated CardiomyopathyDES
Cardiomiopatia dilatadaDilated CardiomyopathyLAMP2
Cardiomiopatia dilatadaDilated CardiomyopathyLDB3
Cardiomiopatia dilatadaDilated CardiomyopathySGCD
Cardiomiopatia dilatadaCardiomyopathy (Dilated)STARD3
Cardiomiopatia dilatadaCardiomyopathy (Dilated)TAZ
Cardiomiopatia dilatadaDilated CardiomyopathyTNNC1
Cardiomiopatia dilatadaDilated CardiomyopathyTNNI3
Cardiomiopatia dilatada 1AADilated Cardiomyopathy 1AAACTN2
Cardiomiopatia dilatada 1HHDilated Cardiomyopathy 1HHBAG3
Cardiomiopatia dilatada 1ODilated Cardiomyopathy 1OABCC9
Cardiomiopatia dilatada 1PDilated Cardiomyopathy 1PPLN
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyACTC1
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyCALR3
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyCAV3
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyMYBPC3
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyMYH6
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyMYH7
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyMYL2
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyMYL3
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyMYLK
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyMYOZ2
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyPRKAG2
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyRPS7
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathySLC25A4
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyTNNT2
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyTPM1
Cardiomiopatia hipertrófica familiarFamilial Hypertrophic CardiomyopathyVCL
Catarata congênita, Dismorfismo facial e NeuropatiaCongenital Cataracts, Facial Dysmorphism, and NeuropathyCTDP1
CistinoseCystinosisCTNS
Complexo de esclerose tuberosaTuberous Sclerosis ComplexTSC1
Complexo de esclerose tuberosaTuberous Sclerosis ComplexTSC2
CoroideremiaChoroideremiaCHM
Craniossinostose relacionada a FGFRFGFR-Related Craniosynostosis SyndromesFGFR1
Defeito do septo atrialAtrial Septal DefectGATA4
Deficiência de acil-CoA desidrogenase de cadeias muito longasVery Long Chain Acyl-Coenzyme A Dehydrogenase DeficiencyACADVL
Deficiência de alfa-1-antitripsinaAlpha-1-Antitrypsin DeficiencySERPINA1
Deficiência de arilsulfatase AArylsulfatase A DeficiencyARSA
Deficiência de b-hidroxiisobutiril-CoA-deacilaseBeta-Hydroxyisobutyryl CoA Deacylase Def. (HIBCH Deficiency)HIBCH
Deficiência de biotinidaseBiotinidase DeficiencyBTD
Deficiência de citrinaCitrin DeficiencySLC25A13
Deficiência de hidroximetilbilano sintaseHydroxymethylbilane Synthase (HMBS) DeficiencyHMBS
Deficiência de ornitina transcarbamilaseOrnithine Transcarbamylase DeficiencyOTC
Disautonomia familiar (HSAN III)Familial Dysautonomia (HSAN III)IKBKAP
Disceratose congênitaDyskeratosis CongenitaDKC1
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaCCDC39
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaCCDC40
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaDNAH11
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaDNAH5
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaDNAH9
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaDNAI1
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaDNAI2
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaRSPH4A
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaRSPH9
Discinesia ciliar primáriaPrimary Ciliary DyskinesiaTXNDC3
DisferlinopatiaDysferlinopathyDYSF
Displasia arritmogênica do ventrículo direito/CardiomiopatiaArrhythmogenic Right Ventricular Dysplasia/CardiomyopathyDSC2
Displasia arritmogênica do ventrículo direito/CardiomiopatiaArrhythmogenic Right Ventricular Dysplasia/CardiomyopathyDSG2
Displasia arritmogênica do ventrículo direito/CardiomiopatiaArrhythmogenic Right Ventricular Dysplasia/CardiomyopathyDSP
Displasia arritmogênica do ventrículo direito/CardiomiopatiaArrhythmogenic Right Ventricular Dysplasia/CardiomyopathyJUP
Displasia arritmogênica do ventrículo direito/CardiomiopatiaArrhythmogenic Right Ventricular Dysplasia/CardiomyopathyPKP2
Displasia arritmogênica do ventrículo direito/CardiomiopatiaArrhythmogenic Right Ventricular Dysplasia/CardiomyopathyRYR2
Displasia arritmogênica do ventrículo direito/CardiomiopatiaArrhythmogenic Right Ventricular Dysplasia/CardiomyopathyTMEM43
Displasia campomélicaCampomelic DysplasiaSOX9
Distonia-parkinsonismo ligada ao XX-Linked Dystonia-ParkinsonismTAF1
Distrofia muscular de Emery-Dreifuss ligada ao XEmery-Dreifuss Muscular Dystrophy, X-LinkedEMD
Distrofia muscular do tipo cinturas tipo 1BLimb-Girdle Muscular Dystrophy, Type 1BLMNA
Distrofia muscular do tipo cinturas tipo 2A – CalpainopatiaLimb-Girdle Muscular Dystrophy Type 2A – CalpainopathyCAPN3
Distrofia muscular facioescapuloumeralFacioscapulohumeral Muscular DystrophyFRG1
Distrofia muscular oculofaríngeaOculopharyngeal Muscular DystrophyPABPN1
Distrofias musculares de Duchenne e BeckerDuchenne/Becker Muscular DystrophyDMD
Doença congênita de glicosilação tipo 1ACongenital Disorder of Glycosylation Type 1aPMM2
Doença da urina de xarope de bordoMaple Syrup Urine DiseaseBCKDHA
Doença da urina de xarope de bordoMaple Syrup Urine DiseaseBCKDHB
Doença da urina de xarope de bordoMaple Syrup Urine DiseaseDBT
Doença da urina de xarope de bordoMaple Syrup Urine DiseaseDLD
Doença de CanavanCanavanASPA
Doença de Charcot-Marie-Tooth tipo 1ACharcot-Marie-Tooth Neuropathy Type 1APMP22
Doença de Charcot-Marie-Tooth tipo 1BCharcot-Marie-Tooth Neuropathy Type 1BMPZ
Doença de Charcot-Marie-Tooth tipo 2ACharcot-Marie-Tooth Neuropathy Type 2AMFN2
Doença de Charcot-Marie-Tooth tipo 2BCharcot-Marie-Tooth Disease Type 2BDNM2
Doença de DarierDarier DiseaseATP2A2
Doença de FabryFabry DiseaseGLA
Doença de GaucherGaucher DiseaseGBA
Doença de MenkesMenkes/ATP7A-Related Copper Transport DiseaseATP7A
Doença de Niemann-Pick tipo C1Niemann-Pick Disease Type C1NPC1
Doença de Niemann-Pick tipo C2Niemann-Pick Disease Type C2NPC2
Doença de Pompe – Glicogenose tipo 2Pompe Disease -GSD IIGAA
Doença de Tay-Sachs; Deficiência de hexosaminidase AHexosaminidase A DeficiencyHEXA
Doença de WilsonWilson DiseaseATP7B
Doença renal policística, autossômica dominantePolycystic Kidney Disease, Autosomal DominantPKD1
Doença renal policística, autossômica recessivaPolycystic Kidney Disease, Autosomal DominantPKD2
Doença renal policística, autossômica recessivaPolycystic Kidney Disease, Autosomal DominantPKHD1
Encefalopatia glicínicaGlycine EncephalopathyAMT
Encefalopatia glicínicaGlycine EncephalopathyGCSH
Encefalopatia glicínicaGlycine EncephalopathyGLDC
Epidermólise bolhosa simplesEpidermolysis Bullosa SimplexCOL7A1
Epidermólise bolhosa simplesEpidermolysis Bullosa SimplexITGB4
Epidermólise bolhosa simplesEpidermolysis Bullosa SimplexKRT14
Epidermólise bolhosa simplesEpidermolysis Bullosa SimplexKRT5
Epidermólise bolhosa simplesEpidermolysis Bullosa SimplexLAMB3
Epidermólise bolhosa simplesEpidermolysis Bullosa SimplexPLEC
Esclerose lateral amiotróficaAmyotrophic Lateral Sclerosis (Lou Gehrig’s Disease)SOD1
Estenose supravalvar aórticaSupravalvular Aortic StenosisELN
Exostose múltipla tipo 1Exostoses, Multiple, Type 1EXT1
FenilcetonúriaPhenylketonuria (PKU)PAH
Fibrose císticaCystic FibrosisCFTR
GalactosemiaGalactosemiaGALT
Glicogenose tipo VIGlycogen Storage Disease Type VIGBE1
Hemocromatose hereditáriaHFE-Associated Hereditary HemochromatosisHFE
Hemofilia AHemophilia AF8
Hemofilia BHemophilia BF9
HipocondroplasiaHypochondroplasiaFGFR3
HipofosfatasiaHypochondroplasiaALPL
Imunodeficiência combinada grave ligada ao XX-Linked SCIDSIL2RG
Lipofuscinose ceróide neuronal (Doença de Batten)Ceroid Lipofuscinoses (Batten Disease)PPT1
Lisencefalia 1Lissencephaly 1PAFAH1B1
Miopatia miotubular ligada ao XX-Linked Myotubular MyopathyMTM1
Miopatia nemalínicaNemaline MyopathyTNNT1
Miosite por corpos de inclusãoInclusion Body Myopathy 2GNE
Miotonia congênitaMyotonia CongenitaCLCN1
Mucilipidose 2Mucolipidosis IIGNPTAB
Neoplasia endócrina múltipla tipo 1Multiple Endocrine Neoplasia Type 1MEN1
Neoplasia endócrina múltipla tipo 2Multiple Endocrine Neoplasia Type 2RET
Neurofibromatose tipo 1Neurofibromatosis Type 1NF1
Neurofibromatose tipo 2Neurofibromatosis Type 2NF2
Nistagmo infantil relacionado a FRMD7FRMD7-Related Infantile NystagmusFRMD7
Osteogênese imperfeitaOsteogenesis ImperfectaCOL1A1
Osteogênese imperfeitaOsteogenesis ImperfectaCOL1A2
Paraplegia espástica 3ASpastic Paraplegia-3AATL1
Paraplegia espástica 7Spastic Paraplegia 7SPG7
Paraplegia espástica 8Spastic Paraplegia 8KIAA0196
Paraplegia espástica tipo 1 – Síndrome L1Spastic Paraplegia Type 1 – L1 SyndromeL1CAM
ParkinsonParkinson DiseaseFBXO7
ParkinsonParkinson DiseaseLRRK2
ParkinsonParkinson DiseasePINK1
ParkinsonParkinson DiseaseSNCA
Parkinson e DemênciaParkinson-Dementia SyndromeMAPT
Polipose associada a APCAPC-Associated Polyposis ConditionsAPC
Polipose juvenilJuvenile Polyposis SyndromeBMPR1A
Polipose juvenilJuvenile Polyposis SyndromeSMAD4
QuerubismoCherubismSH3BP2
Retinoquise juvenil ligada ao XX-Linked Juvenile RetinoschisisRS1
Síndrome Branquio-oto-renalBranchiootorenal Spectrum DisordersEYA1
Síndrome Branquio-oto-renalBranchiootorenal Spectrum DisordersSIX1
Síndrome Branquio-oto-renalBranchiootorenal Spectrum DisordersSIX5
Síndrome de AlagilleAlagille SyndromeJAG1
Síndrome de AlpersAlpers SyndromePOLG
Síndrome de AlportAlport SyndromeCOL4A5
Síndrome de Blefarofimose-ptose-epicanto invertidoBlepharophimosis-Ptosis-Epicanthus InversusFOXL2
Síndrome de BrugadaBrugada SyndromeCACNA1C
Síndrome de BrugadaBrugada SyndromeCACNB2
Síndrome de BrugadaBrugada SyndromeGPD1L
Síndrome de BrugadaBrugada SyndromeHCN4
Síndrome de BrugadaBrugada SyndromeKCNE3
Síndrome de BrugadaBrugada SyndromeSCN1B
Síndrome de BrugadaBrugada SyndromeSCN3B
Síndrome de BrugadaBrugada SyndromeSCN5A
Síndrome de ChargeCharge SyndromeCHD7
Síndrome de Coffin-LowryCoffin-Lowry SyndromeRPS6KA3
Síndrome de Cornélia de LangeCornelia de Lange SyndromeNIPBL
Síndrome de Duane – autossômica dominanteDuane Syndrome – Autosomal DominantSALL4
Síndrome de duplo córtex; LisencefaliaDouble Cortex SyndromeDCX
Síndrome de Ehlers-DanlosEhlers-Danlos SyndromeCOL3A1
Síndrome de Ehlers-DanlosEhlers-Danlos Syndrome, Classic TypeCOL5A1
Síndrome de Ehlers-DanlosEhlers-Danlos Syndrome, Classic TypeCOL5A2
Síndrome de Ehlers-DanlosEhlers-Danlos Syndrome, Kyphoscoliotic FormPLOD1
Síndrome de Ehlers-DanlosEhlers-Danlos Syndrome, Hypermobility TypeTNXB
Síndrome de FrynsFryns SyndromeMED12
Síndrome de Holt-OramHolt-Oram SyndromeTBX5
Síndrome de Hunter (MPSII)Hunter Syndrome (MPSII)IDS
Síndrome de Hurler (MPSI)Hurler Syndrome (MPSI)IDUA
Síndrome de insensibilidade a andrógenosAndrogen Insensitivity SyndromeAKR1B1
Síndrome de Li-FraumeniLi-Fraumeni SyndromeCHEK2
Síndrome de Li-FraumeniLi-Fraumeni SyndromeTP53
Síndrome de LoweLowe SyndromeOCRL
Síndrome de MarfanMarfan SyndromeFBN1
Síndrome de NoonanNoonan SyndromeKRAS
Síndrome de NoonanNoonan SyndromeNRAS
Síndrome de NoonanNoonan SyndromePTPN11
Síndrome de NoonanNoonan SyndromeRAF1
Síndrome de NoonanNoonan SyndromeSOS1
Síndrome de Pendred/Surdez sindrômicaPendred Syndrome/Syndromic DeafnessSLC26A4
Síndrome de RettMECP2-Rett SyndromeMECP2
Síndrome de SticklerStickler SyndromeCOL9A1
Síndrome de Stickler, autossômica dominanteStickler Syndrome, ADCOL11A1
Síndrome de Stickler, autossômica dominanteStickler Syndrome, ADCOL2A1
Síndrome de Treacher CollinsTreacher Collins SyndromeTCOF1
Síndrome de TurcotTurcot SyndromeMLH1
Síndrome de TurcotTurcot SyndromeMSH2
Síndrome de Usher tipo 1Usher Syndrome Type 1CDH23
Síndrome de Usher tipo 1Usher Syndrome Type 1MYO7A
Síndrome de Usher tipo 1Usher Syndrome Type 1PCDH15
Síndrome de Usher tipo 1Usher Syndrome Type 1USH1C
Síndrome de Usher tipo 2Usher Syndrome Type 2USH2A
Síndrome de von Hippel-Lindauvon Hippel-Lindau SyndromeVHL
Síndrome de Waardenburg tipo 1Waardenburg Syndrome, Type 1PAX3
Síndrome de WernerWerner SyndromeWRN
Síndrome de Wiskott-AldrichWiskott-Aldrich SyndromeWAS
Síndrome de ZellwegerZellweger SyndromePEX1
Síndrome de Zellweger – Biogênese do peroxissomoPeroxisome Biogenesis, ZellwegerPEX10
Síndrome de Zellweger – Biogênese do peroxissomoPeroxisome Biogenesis, ZellwegerPEX13
Síndrome de Zellweger – Biogênese do peroxissomoPeroxisome Biogenesis, ZellwegerPEX14
Síndrome de Zellweger – Biogênese do peroxissomoPeroxisome Biogenesis, ZellwegerPEX19
Síndrome de Zellweger – Biogênese do peroxissomoPeroxisome Biogenesis, ZellwegerPEX26
Síndrome de Zellweger – Biogênese do peroxissomoPeroxisome Biogenesis, ZellwegerPEX3
Síndrome do nevo basocelular, Síndrome de Gorlin-GotzHoloprosencephaly-7 & Basal Cell Nevus SyndromePTCH1
Síndrome do QT longo, autossômica dominanteLong QT Syndrome, Autosomal DominantAKAP9
Síndrome do QT longo, autossômica dominanteLong QT Syndrome, Autosomal DominantKCNE1
Síndrome do QT longo, autossômica dominanteLong QT Syndrome, Autosomal DominantKCNE2
Síndrome do QT longo, autossômica dominanteLong QT Syndrome, Autosomal DominantKCNH2
Síndrome do QT longo, autossômica dominanteLong QT Syndrome, Autosomal DominantKCNQ1
Síndrome do QT longo, autossômica dominanteLong QT Syndrome, Autosomal DominantSCN4B
Síndrome do QT longo, autossômica dominanteLong QT Syndrome, Autosomal DominantSNTA1
Síndrome do QT longo/curto, autossômica dominanteLong/Short QT Syndrome, Autosomal DominantANK2
Síndrome poliendrócrina autoimuneAutoimmune Polyendocrine SyndromeAIRE
Síndromes miastênicas congênitasCongenital Myasthenic SyndromesCHAT
Síndromes miastênicas congênitasCongenital Myasthenic SyndromesCHRNA1
Síndromes miastênicas congênitasCongenital Myasthenic SyndromesCHRNB1
Síndromes miastênicas congênitasCongenital Myasthenic SyndromesCHRND
Síndromes miastênicas congênitasCongenital Myasthenic SyndromesCHRNE
Síndromes miastênicas congênitasCongenital Myasthenic SyndromesDOK7
Síndromes miastênicas congênitasCongenital Myasthenic SyndromesRAPSN
Surdez hereditáriaInherited DeafnessCOL11A2
Surdez hereditáriaInherited Deafness, Top GenesGJB2
Surdez hereditáriaInherited Deafness, Top GenesGJB3
Surdez hereditáriaInherited Deafness, Top GenesGJB6
Surdez hereditáriaInherited DeafnessKCNQ4
Susceptibilidade à hipertermia malígnaMalignant Hyperthermia SusceptibilityRYR1
Talassemia alfaAlpha-Thalassemia – Southeast AsiaHBA2
Taquicardia ventricular catecolaminérgica polimórficaCatecholaminergic Polymorphic Ventricular Tachycardia (CPVT)CASQ2
Telangiectasia hemorrágica hereditáriaHereditary Hemorrhagic TelangiectasiaENG
Tetralogia de FallotTetralogy of FallotNKX2-5
TrimeltilaminúriaTrimethylaminuriaFMO3
Tumor de WilmsWilms Tumor, ClassicalGPC3
Tumor de WilmsWilms Tumor, ClassicalWT1
Xantomatose cerebrotendinosaCerebrotendinous XanthomatosisCYP27A1
Solicite orçamento/informação:  contate (11) 3065-0800  ou  atendimento@rdo.med.br 
ANÁLISE DE 202 POLIMORFISMO RELACIONADOS AO RENDIMENTO E AS DOENÇAS CARDIOVASCULARES –  SEQUENCIAMENTO NGS
MUTAÇÕES MITOCONDRIAIS,  SEQUENCIAMENTO NGS 
NIPT-B NACE-RDO/BASICO – PESQUISA DE ANEUPLOIDIAS FETAIS (5 CROMOSSOMOS – trissomias13, 18, 21 e alterações em X e Y ) EM SANGUE MATERNO PERIFÉRICO A PARTIR DE 10 SEMANAS COMPLETA DE GESTAÇÃO POR NGS (NEXT GENERATION  SEQUENCING)
NIPT-A NACE-RDO/AVANÇADO – PESQUISA DE ANEUPLOIDIAS FETAIS (24 CROMOSSOMOS +MICRODELEÇÕES + ALTERAÇÕES CROMOSSOMICAS EM X e Y) POR  SANGUE MATERNO PERIFÉRICO A PARTIR DE 10 SEMANAS COMPLETA DE GESTAÇÃO POR NGS (NEXT GENERATION  SEQUENCING)
Solicite orçamento/informação:  contate (11) 3065-0800  ou  atendimento@rdo.med.br
 ESTUDO E AVALIAÇÃO DA PREDISPOSIÇÃO  DE 58 GENES –  SEQUENCIAMENTO NGS
 ESTUDO E AVALIAÇÃO DE 7 POLIMORFISMO EM 5 GENES MONANDO UMA ANÁLISE PREDITIVA DO DESENVOLVIMENTO DA OSTEOPOROSE  –  SEQUENCIAMENTO NGS

 

AVALIAÇÃO FARMACOCINÉTICA  DA RESPOSTA DOS 14 MEDICAMENTOS MAIS UTILIZADOS NA PRÁTICA CLÍNICA NO TRATAMENTO DOS TRANSTORNOS PSICÓTICOS – PAINEL RDO NGS
ESTUDO DA REAÇÃO A DIVERSOS MEDICAMENTOS –  AMOSTRA DE SALIVA –  SEQUENCIAMENTO NGS 
*Fenótipos associados ao gene, mas não relacionados com perda auditiva
Deafness, autosomal dominant 20/26 ACTG1
Baraitser-Winter syndrome 2*
Deafness, autosomal dominant 44 CCDC50
Deafness, autosomal recessive 12 CDH23
Usher syndrome, type 1D
Usher syndrome, type 1D/F digenic
Deafness, autosomal dominant 4B CEACAM16
Deafness, autosomal recessive 29 CLDN14
Deafness, autosomal dominant 9 COCH
Deafness, autosomal dominant 13 COL11A2
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type III
Weissenbacher-Zweymuller syndrome
Deafness, autosomal dominant 40 CRYM
Alport syndrome, autosomal dominant COL4A3
Alport syndrome, autosomal recessive
Hematuria, benign familial
Alport syndrome, autosomal recessive COL4A4
Hematuria, familial benign
Alport syndrome COL4A5
Deafness, autosomal dominant 5 DFNA5
Deafness, autosomal recessive 59 DFNB59
Deafness, autosomal dominant 1 DIAPH1
Deafness, autosomal dominant 36, with dentinogenesis DSPP
Dentin dysplasia, type II*
Dentinogenesis imperfecta, Shields type II*
Dentinogenesis imperfecta, Shields type III
Deafness, autosomal recessive 36 ESPN
Deafness, neurosensory, without vestibular involvement, autosomal dominant
Deafness, autosomal recessive 35 ESRRB
Otofaciocervical syndrome EYA1
Anterior segment anomalies with or without cataract
Branchiootic syndrome 1
Branchiootorenal syndrome 1, with or without cataracts
Cardiomyopathy, dilated, 1J EYA4
Deafness, autosomal dominant 10
Deafness, autosomal recessive 15 GIPC3
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 GJB1
Bart-Pumphrey syndrome GJB2
Deafness, autosomal dominant 3A
Deafness, autosomal recessive 1A
Hystrix-like ichthyosis with deafness
Keratitis-ichthyosis-deafness syndrome
Keratoderma, palmoplantar, with deafness
Vohwinkel syndrome
Deafness, autosomal dominant 2B GJB3
Deafness, autosomal dominant, with peripheral neuropathy
Deafness, autosomal recessive
Deafness, digenic, GJB2/GJB3
Erythrokeratodermia variabilis et progressiva
Deafness, autosomal dominant 3B GJB6
Deafness, autosomal recessive 1B
Deafness, digenic GJB2/GJB6
Ectodermal dysplasia 2, Clouston type*
Chudley-McCullough syndrome GPSM2
Deafness, autosomal dominant 28 GRHL2
Ectodermal dysplasia/short stature syndrome
Deafness, autosomal recessive 25 GRXCR1
Deafness, autosomal recessive 39 HGF
Deafness, autosomal recessive 42 ILDR1
Deafness, autosomal dominant 2A KCNQ4
Deafness, autosomal recessive 67 LHFPL5
Deafness, autosomal recessive 77 LOXHD1
Deafness, autosomal recessive 63 LRTOMT
Deafness, autosomal recessive 49 MARVELD2
Deafness, autosomal dominant 50 MIRN96
Deafness, autosomal recessive 74 MSRB3
Deafness, autosomal dominant 4A MYH14
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Deafness, autosomal dominant 17 MYH9
Epstein syndrome
Fechtner syndrome
Macrothrombocytopenia and progressive sensorineural deafness
May-Hegglin anomaly
Sebastian syndrome
Deafness, autosomal recessive 3 MYO15A
Deafness, autosomal dominant 48 MYO1A
Deafness, autosomal recessive 30 MYO3A
Deafness, autosomal dominant 22 MYO6
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Deafness, autosomal recessive 37
Deafness, autosomal dominant 11 MYO7A
Deafness, autosomal recessive 2
Usher syndrome, type 1B
Deafness, autosomal recessive 22 OTOA
Auditory neuropathy, autosomal recessive, 1 OTOF
Deafness, autosomal recessive 9
Craniofacial-deafness-hand syndrome PAX3
Rhabdomyosarcoma 2, alveolar*
Waardenburg syndrome, type 1
Waardenburg syndrome, type 3
Deafness, autosomal recessive 23 PCDH15
Usher syndrome, type 1D/F digenic
Usher syndrome, type 1F
Deafness, X-linked 2 POU3F4
Deafness, autosomal dominant 15 POU4F3
LEOPARD syndrome 1 PTPN11
Leukemia, juvenile myelomonocytic*
Metachondromatosis*
Noonan syndrome 1*
Arts syndrome PRPS1
Charcot-Marie-Tooth disease, X-linked recessive, 5
Deafness, X-linked 1
Gout, PRPS-related
Phosphoribosylpyrophosphate synthetase superactivity
Deafness, autosomal recessive 84A PTPRQ
Cardiomyopathy, dilated, 1NN* RAF1
LEOPARD syndrome 2
Noonan syndrome 5*
Deafness, autosomal recessive 24 RDX
Deafness, autosomal recessive 91 SERPINB6
Brachiootic syndrome 3 SIX1
Deafness, autosomal dominant 23
Branchiootorenal syndrome 2 SIX5
Deafness, autosomal dominant 25 SLC17A8
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct SLC26A4
Pendred syndrome
Deafness, autosomal recessive 61 SLC26A5
Deafness, autosomal dominant 64 DIABLO (SMAC)
Deafness, X-linked 4 SMPX
Piebaldism SNAI2
Waardenburg syndrome, type 2D
PCWH syndrome SOX10
Waardenburg syndrome, type 2E, with or without neurologic involvement
Waardenburg syndrome, type 4C
Deafness, autosomal recessive 16 STRC
Treacher Collins syndrome 1 TCOF1
Deafness, autosomal dominant 8/12 TECTA
Deafness, autosomal recessive 21
Cholestasis, progressive familial intrahepatic 4* TJP2
Hypercholanemia, familial*
Deafness, autosomal dominant 51
Deafness, autosomal dominant 36
Deafness, autosomal recessive 7
Deafness, autosomal recessive 6 TMIE
Deafness, autosomal recessive 8/10 TMPRSS3
Deafness, autosomal recessive 79 TPRN
Deafness, autosomal recessive 28 TRIOBP
Deafness, autosomal recessive 18A USH1C
Usher syndrome, type 1C
Retinitis pigmentosa 39 USH2A
Usher syndrome, type 2A
Cataract 41* WFS1
Deafness, autosomal dominant 6/14/38
Wolfram syndrome
Wolfram-like syndrome, autosomal dominant
Diabetes mellitus, noninsulin-dependent, association with*
Deafness, autosomal recessive 31 WHRN
Usher syndrome, type 2D
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