LISTA DE EXAMES

GENÉTICA

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-Succínica Argininosuccinate Lyase Deficiency ASL
Acidúria metilmalônica Methylmalonic Acidemia MMAA
Acidúria metilmalônica Methylmalonic Acidemia MMAB
Acidúria metilmalônica Methylmalonic Acidemia MMACHC
Acidúria metilmalônica Methylmalonic Acidemia MUT
Adrenoleucodistrofia ligada ao X X-Linked Adrenoleukodystrophy ABCD1
Adrenoleucodistrofia neonatal Neonatal Adrenoleucodystrophy PEX5
Agamaglobulinemia ligada ao X tipo 1 Agammaglobulinemia, X-Linked, Type 1 BTK
Albinismo ocular ligado ao X Ocular Albinism, X-Linked GPR143
Albinismo oculocutâneo tipo 1 Oculocutaneous Albinism Type 1 TYR
Albinismo oculocutâneo tipo 2 Oculocutaneous Albinism Type 2 MC1R
Albinismo oculocutâneo tipo 3 Oculocutaneous Albinism Type 2 OCA2
Alopécia universal congênita Alopecia Universalis Congenita (ALUNC) HR
Alzheimer familiar precoce Early-Onset Familial Alzheimer Disease APP
Alzheimer familiar precoce Early-Onset Familial Alzheimer Disease PSEN1
Alzheimer familiar precoce Early-Onset Familial Alzheimer Disease PSEN2
Amaurose congênita de Leber Leber Congenital Amaurosis AIPL1
Amaurose congênita de Leber Leber Congenital Amaurosis CEP290
Amaurose congênita de Leber Leber Congenital Amaurosis CRB1
Amaurose congênita de Leber Leber Congenital Amaurosis GUCY2D
Amaurose congênita de Leber Leber Congenital Amaurosis IMPDH1
Amaurose congênita de Leber Leber Congenital Amaurosis RDH12
Amaurose congênita de Leber Leber Congenital Amaurosis RPE65
Amaurose congênita de Leber Leber Congenital Amaurosis RPGRIP1
Amiloidose familiar por transtirretina Familial Transthyretin Amyloidosis TTR
Anemia de Diamond-Blackfan Diamond-Blackfan Anemia RPL11
Anemia de Diamond-Blackfan Diamond-Blackfan Anemia RPL35A
Anemia de Diamond-Blackfan Diamond-Blackfan Anemia RPS10
Anemia de Diamond-Blackfan Diamond-Blackfan Anemia RPS19
Anemia de Diamond-Blackfan Diamond-Blackfan Anemia RPS24
Anemia de Diamond-Blackfan Diamond-Blackfan Anemia RPS26
Anemia Fanconi Fanconi Anemia FANCA
Anemia Fanconi Fanconi Anemia FANCC
Anemia Fanconi Fanconi Anemia FANCF
Anemia Fanconi Fanconi Anemia FANCG
Aneurismas aórticos torácicos e dissecção aórtica Thoracic Aortic Aneurysms and Aortic Dissections ACTA2
Aneurismas aórticos torácicos e dissecção aórtica Thoracic Aortic Aneurysms and Aortic Dissections COL4A1
Aneurismas aórticos torácicos e dissecção aórtica Thoracic Aortic Aneurysms and Aortic Dissections MYH11
Aneurismas aórticos torácicos e dissecção aórtica Thoracic Aortic Aneurysms and Aortic Dissections SMAD3
Aneurismas aórticos torácicos e dissecção aórtica Thoracic Aortic Aneurysms and Aortic Dissections TGFBR1
Aneurismas aórticos torácicos e dissecção aórtica Thoracic Aortic Aneurysms and Aortic Dissections TGFBR2
Angioedema hereditário, tipos 1 e 2 Angioedema, Hereditary, Types I and II SERPING1
Aniridia Aniridia PAX6
Ataxia com apraxia oculomotora tipo 2 Ataxia with Oculomotor Apraxia Type 2 APTX
Ataxia com deficiência de vitamina E Ataxia with Vitamin E Deficiency TTPA
Ataxia de Friedreich Friedreich Ataxia FXN
Ataxia espinocerebelar 1 Spinocerebellar Ataxia 1 ATXN1
Ataxia espinocerebelar 2 Spinocerebellar Ataxia 2 ATXN2
Ataxia espinocerebelar 7 Spinocerebellar Ataxia 7 ATXN7
Ataxia Teleangiectasia Ataxia-Telangiectasia ATM
Braquidactilia Brachydactyly GDF5
Braquidactilia tipo B1 Brachydactyly, Type B1 ROR2
Cardiomiopatia dilatada Dilated Cardiomyopathy DES
Cardiomiopatia dilatada Dilated Cardiomyopathy LAMP2
Cardiomiopatia dilatada Dilated Cardiomyopathy LDB3
Cardiomiopatia dilatada Dilated Cardiomyopathy SGCD
Cardiomiopatia dilatada Cardiomyopathy (Dilated) STARD3
Cardiomiopatia dilatada Cardiomyopathy (Dilated) TAZ
Cardiomiopatia dilatada Dilated Cardiomyopathy TNNC1
Cardiomiopatia dilatada Dilated Cardiomyopathy TNNI3
Cardiomiopatia dilatada 1AA Dilated Cardiomyopathy 1AA ACTN2
Cardiomiopatia dilatada 1HH Dilated Cardiomyopathy 1HH BAG3
Cardiomiopatia dilatada 1O Dilated Cardiomyopathy 1O ABCC9
Cardiomiopatia dilatada 1P Dilated Cardiomyopathy 1P PLN
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy ACTC1
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy CALR3
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy CAV3
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy MYBPC3
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy MYH6
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy MYH7
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy MYL2
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy MYL3
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy MYLK
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy MYOZ2
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy PRKAG2
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy RPS7
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy SLC25A4
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy TNNT2
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy TPM1
Cardiomiopatia hipertrófica familiar Familial Hypertrophic Cardiomyopathy VCL
Catarata congênita, Dismorfismo facial e Neuropatia Congenital Cataracts, Facial Dysmorphism, and Neuropathy CTDP1
Cistinose Cystinosis CTNS
Complexo de esclerose tuberosa Tuberous Sclerosis Complex TSC1
Complexo de esclerose tuberosa Tuberous Sclerosis Complex TSC2
Coroideremia Choroideremia CHM
Craniossinostose relacionada a FGFR FGFR-Related Craniosynostosis Syndromes FGFR1
Defeito do septo atrial Atrial Septal Defect GATA4
Deficiência de acil-CoA desidrogenase de cadeias muito longas Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADVL
Deficiência de alfa-1-antitripsina Alpha-1-Antitrypsin Deficiency SERPINA1
Deficiência de arilsulfatase A Arylsulfatase A Deficiency ARSA
Deficiência de b-hidroxiisobutiril-CoA-deacilase Beta-Hydroxyisobutyryl CoA Deacylase Def. (HIBCH Deficiency) HIBCH
Deficiência de biotinidase Biotinidase Deficiency BTD
Deficiência de citrina Citrin Deficiency SLC25A13
Deficiência de hidroximetilbilano sintase Hydroxymethylbilane Synthase (HMBS) Deficiency HMBS
Deficiência de ornitina transcarbamilase Ornithine Transcarbamylase Deficiency OTC
Disautonomia familiar (HSAN III) Familial Dysautonomia (HSAN III) IKBKAP
Disceratose congênita Dyskeratosis Congenita DKC1
Discinesia ciliar primária Primary Ciliary Dyskinesia CCDC39
Discinesia ciliar primária Primary Ciliary Dyskinesia CCDC40
Discinesia ciliar primária Primary Ciliary Dyskinesia DNAH11
Discinesia ciliar primária Primary Ciliary Dyskinesia DNAH5
Discinesia ciliar primária Primary Ciliary Dyskinesia DNAH9
Discinesia ciliar primária Primary Ciliary Dyskinesia DNAI1
Discinesia ciliar primária Primary Ciliary Dyskinesia DNAI2
Discinesia ciliar primária Primary Ciliary Dyskinesia RSPH4A
Discinesia ciliar primária Primary Ciliary Dyskinesia RSPH9
Discinesia ciliar primária Primary Ciliary Dyskinesia TXNDC3
Disferlinopatia Dysferlinopathy DYSF
Displasia arritmogênica do ventrículo direito/Cardiomiopatia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy DSC2
Displasia arritmogênica do ventrículo direito/Cardiomiopatia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy DSG2
Displasia arritmogênica do ventrículo direito/Cardiomiopatia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy DSP
Displasia arritmogênica do ventrículo direito/Cardiomiopatia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy JUP
Displasia arritmogênica do ventrículo direito/Cardiomiopatia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy PKP2
Displasia arritmogênica do ventrículo direito/Cardiomiopatia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy RYR2
Displasia arritmogênica do ventrículo direito/Cardiomiopatia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy TMEM43
Displasia campomélica Campomelic Dysplasia SOX9
Distonia-parkinsonismo ligada ao X X-Linked Dystonia-Parkinsonism TAF1
Distrofia muscular de Emery-Dreifuss ligada ao X Emery-Dreifuss Muscular Dystrophy, X-Linked EMD
Distrofia muscular do tipo cinturas tipo 1B Limb-Girdle Muscular Dystrophy, Type 1B LMNA
Distrofia muscular do tipo cinturas tipo 2A – Calpainopatia Limb-Girdle Muscular Dystrophy Type 2A – Calpainopathy CAPN3
Distrofia muscular facioescapuloumeral Facioscapulohumeral Muscular Dystrophy FRG1
Distrofia muscular oculofaríngea Oculopharyngeal Muscular Dystrophy PABPN1
Distrofias musculares de Duchenne e Becker Duchenne/Becker Muscular Dystrophy DMD
Doença congênita de glicosilação tipo 1A Congenital Disorder of Glycosylation Type 1a PMM2
Doença da urina de xarope de bordo Maple Syrup Urine Disease BCKDHA
Doença da urina de xarope de bordo Maple Syrup Urine Disease BCKDHB
Doença da urina de xarope de bordo Maple Syrup Urine Disease DBT
Doença da urina de xarope de bordo Maple Syrup Urine Disease DLD
Doença de Canavan Canavan ASPA
Doença de Charcot-Marie-Tooth tipo 1A Charcot-Marie-Tooth Neuropathy Type 1A PMP22
Doença de Charcot-Marie-Tooth tipo 1B Charcot-Marie-Tooth Neuropathy Type 1B MPZ
Doença de Charcot-Marie-Tooth tipo 2A Charcot-Marie-Tooth Neuropathy Type 2A MFN2
Doença de Charcot-Marie-Tooth tipo 2B Charcot-Marie-Tooth Disease Type 2B DNM2
Doença de Darier Darier Disease ATP2A2
Doença de Fabry Fabry Disease GLA
Doença de Gaucher Gaucher Disease GBA
Doença de Menkes Menkes/ATP7A-Related Copper Transport Disease ATP7A
Doença de Niemann-Pick tipo C1 Niemann-Pick Disease Type C1 NPC1
Doença de Niemann-Pick tipo C2 Niemann-Pick Disease Type C2 NPC2
Doença de Pompe – Glicogenose tipo 2 Pompe Disease -GSD II GAA
Doença de Tay-Sachs; Deficiência de hexosaminidase A Hexosaminidase A Deficiency HEXA
Doença de Wilson Wilson Disease ATP7B
Doença renal policística, autossômica dominante Polycystic Kidney Disease, Autosomal Dominant PKD1
Doença renal policística, autossômica recessiva Polycystic Kidney Disease, Autosomal Dominant PKD2
Doença renal policística, autossômica recessiva Polycystic Kidney Disease, Autosomal Dominant PKHD1
Encefalopatia glicínica Glycine Encephalopathy AMT
Encefalopatia glicínica Glycine Encephalopathy GCSH
Encefalopatia glicínica Glycine Encephalopathy GLDC
Epidermólise bolhosa simples Epidermolysis Bullosa Simplex COL7A1
Epidermólise bolhosa simples Epidermolysis Bullosa Simplex ITGB4
Epidermólise bolhosa simples Epidermolysis Bullosa Simplex KRT14
Epidermólise bolhosa simples Epidermolysis Bullosa Simplex KRT5
Epidermólise bolhosa simples Epidermolysis Bullosa Simplex LAMB3
Epidermólise bolhosa simples Epidermolysis Bullosa Simplex PLEC
Esclerose lateral amiotrófica Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease) SOD1
Estenose supravalvar aórtica Supravalvular Aortic Stenosis ELN
Exostose múltipla tipo 1 Exostoses, Multiple, Type 1 EXT1
Fenilcetonúria Phenylketonuria (PKU) PAH
Fibrose cística Cystic Fibrosis CFTR
Galactosemia Galactosemia GALT
Glicogenose tipo VI Glycogen Storage Disease Type VI GBE1
Hemocromatose hereditária HFE-Associated Hereditary Hemochromatosis HFE
Hemofilia A Hemophilia A F8
Hemofilia B Hemophilia B F9
Hipocondroplasia Hypochondroplasia FGFR3
Hipofosfatasia Hypochondroplasia ALPL
Imunodeficiência combinada grave ligada ao X X-Linked SCIDS IL2RG
Lipofuscinose ceróide neuronal (Doença de Batten) Ceroid Lipofuscinoses (Batten Disease) PPT1
Lisencefalia 1 Lissencephaly 1 PAFAH1B1
Miopatia miotubular ligada ao X X-Linked Myotubular Myopathy MTM1
Miopatia nemalínica Nemaline Myopathy TNNT1
Miosite por corpos de inclusão Inclusion Body Myopathy 2 GNE
Miotonia congênita Myotonia Congenita CLCN1
Mucilipidose 2 Mucolipidosis II GNPTAB
Neoplasia endócrina múltipla tipo 1 Multiple Endocrine Neoplasia Type 1 MEN1
Neoplasia endócrina múltipla tipo 2 Multiple Endocrine Neoplasia Type 2 RET
Neurofibromatose tipo 1 Neurofibromatosis Type 1 NF1
Neurofibromatose tipo 2 Neurofibromatosis Type 2 NF2
Nistagmo infantil relacionado a FRMD7 FRMD7-Related Infantile Nystagmus FRMD7
Osteogênese imperfeita Osteogenesis Imperfecta COL1A1
Osteogênese imperfeita Osteogenesis Imperfecta COL1A2
Paraplegia espástica 3A Spastic Paraplegia-3A ATL1
Paraplegia espástica 7 Spastic Paraplegia 7 SPG7
Paraplegia espástica 8 Spastic Paraplegia 8 KIAA0196
Paraplegia espástica tipo 1 – Síndrome L1 Spastic Paraplegia Type 1 – L1 Syndrome L1CAM
Parkinson Parkinson Disease FBXO7
Parkinson Parkinson Disease LRRK2
Parkinson Parkinson Disease PINK1
Parkinson Parkinson Disease SNCA
Parkinson e Demência Parkinson-Dementia Syndrome MAPT
Polipose associada a APC APC-Associated Polyposis Conditions APC
Polipose juvenil Juvenile Polyposis Syndrome BMPR1A
Polipose juvenil Juvenile Polyposis Syndrome SMAD4
Querubismo Cherubism SH3BP2
Retinoquise juvenil ligada ao X X-Linked Juvenile Retinoschisis RS1
Síndrome Branquio-oto-renal Branchiootorenal Spectrum Disorders EYA1
Síndrome Branquio-oto-renal Branchiootorenal Spectrum Disorders SIX1
Síndrome Branquio-oto-renal Branchiootorenal Spectrum Disorders SIX5
Síndrome de Alagille Alagille Syndrome JAG1
Síndrome de Alpers Alpers Syndrome POLG
Síndrome de Alport Alport Syndrome COL4A5
Síndrome de Blefarofimose-ptose-epicanto invertido Blepharophimosis-Ptosis-Epicanthus Inversus FOXL2
Síndrome de Brugada Brugada Syndrome CACNA1C
Síndrome de Brugada Brugada Syndrome CACNB2
Síndrome de Brugada Brugada Syndrome GPD1L
Síndrome de Brugada Brugada Syndrome HCN4
Síndrome de Brugada Brugada Syndrome KCNE3
Síndrome de Brugada Brugada Syndrome SCN1B
Síndrome de Brugada Brugada Syndrome SCN3B
Síndrome de Brugada Brugada Syndrome SCN5A
Síndrome de Charge Charge Syndrome CHD7
Síndrome de Coffin-Lowry Coffin-Lowry Syndrome RPS6KA3
Síndrome de Cornélia de Lange Cornelia de Lange Syndrome NIPBL
Síndrome de Duane – autossômica dominante Duane Syndrome – Autosomal Dominant SALL4
Síndrome de duplo córtex; Lisencefalia Double Cortex Syndrome DCX
Síndrome de Ehlers-Danlos Ehlers-Danlos Syndrome COL3A1
Síndrome de Ehlers-Danlos Ehlers-Danlos Syndrome, Classic Type COL5A1
Síndrome de Ehlers-Danlos Ehlers-Danlos Syndrome, Classic Type COL5A2
Síndrome de Ehlers-Danlos Ehlers-Danlos Syndrome, Kyphoscoliotic Form PLOD1
Síndrome de Ehlers-Danlos Ehlers-Danlos Syndrome, Hypermobility Type TNXB
Síndrome de Fryns Fryns Syndrome MED12
Síndrome de Holt-Oram Holt-Oram Syndrome TBX5
Síndrome de Hunter (MPSII) Hunter Syndrome (MPSII) IDS
Síndrome de Hurler (MPSI) Hurler Syndrome (MPSI) IDUA
Síndrome de insensibilidade a andrógenos Androgen Insensitivity Syndrome AKR1B1
Síndrome de Li-Fraumeni Li-Fraumeni Syndrome CHEK2
Síndrome de Li-Fraumeni Li-Fraumeni Syndrome TP53
Síndrome de Lowe Lowe Syndrome OCRL
Síndrome de Marfan Marfan Syndrome FBN1
Síndrome de Noonan Noonan Syndrome KRAS
Síndrome de Noonan Noonan Syndrome NRAS
Síndrome de Noonan Noonan Syndrome PTPN11
Síndrome de Noonan Noonan Syndrome RAF1
Síndrome de Noonan Noonan Syndrome SOS1
Síndrome de Pendred/Surdez sindrômica Pendred Syndrome/Syndromic Deafness SLC26A4
Síndrome de Rett MECP2-Rett Syndrome MECP2
Síndrome de Stickler Stickler Syndrome COL9A1
Síndrome de Stickler, autossômica dominante Stickler Syndrome, AD COL11A1
Síndrome de Stickler, autossômica dominante Stickler Syndrome, AD COL2A1
Síndrome de Treacher Collins Treacher Collins Syndrome TCOF1
Síndrome de Turcot Turcot Syndrome MLH1
Síndrome de Turcot Turcot Syndrome MSH2
Síndrome de Usher tipo 1 Usher Syndrome Type 1 CDH23
Síndrome de Usher tipo 1 Usher Syndrome Type 1 MYO7A
Síndrome de Usher tipo 1 Usher Syndrome Type 1 PCDH15
Síndrome de Usher tipo 1 Usher Syndrome Type 1 USH1C
Síndrome de Usher tipo 2 Usher Syndrome Type 2 USH2A
Síndrome de von Hippel-Lindau von Hippel-Lindau Syndrome VHL
Síndrome de Waardenburg tipo 1 Waardenburg Syndrome, Type 1 PAX3
Síndrome de Werner Werner Syndrome WRN
Síndrome de Wiskott-Aldrich Wiskott-Aldrich Syndrome WAS
Síndrome de Zellweger Zellweger Syndrome PEX1
Síndrome de Zellweger – Biogênese do peroxissomo Peroxisome Biogenesis, Zellweger PEX10
Síndrome de Zellweger – Biogênese do peroxissomo Peroxisome Biogenesis, Zellweger PEX13
Síndrome de Zellweger – Biogênese do peroxissomo Peroxisome Biogenesis, Zellweger PEX14
Síndrome de Zellweger – Biogênese do peroxissomo Peroxisome Biogenesis, Zellweger PEX19
Síndrome de Zellweger – Biogênese do peroxissomo Peroxisome Biogenesis, Zellweger PEX26
Síndrome de Zellweger – Biogênese do peroxissomo Peroxisome Biogenesis, Zellweger PEX3
Síndrome do nevo basocelular, Síndrome de Gorlin-Gotz Holoprosencephaly-7 & Basal Cell Nevus Syndrome PTCH1
Síndrome do QT longo, autossômica dominante Long QT Syndrome, Autosomal Dominant AKAP9
Síndrome do QT longo, autossômica dominante Long QT Syndrome, Autosomal Dominant KCNE1
Síndrome do QT longo, autossômica dominante Long QT Syndrome, Autosomal Dominant KCNE2
Síndrome do QT longo, autossômica dominante Long QT Syndrome, Autosomal Dominant KCNH2
Síndrome do QT longo, autossômica dominante Long QT Syndrome, Autosomal Dominant KCNQ1
Síndrome do QT longo, autossômica dominante Long QT Syndrome, Autosomal Dominant SCN4B
Síndrome do QT longo, autossômica dominante Long QT Syndrome, Autosomal Dominant SNTA1
Síndrome do QT longo/curto, autossômica dominante Long/Short QT Syndrome, Autosomal Dominant ANK2
Síndrome poliendrócrina autoimune Autoimmune Polyendocrine Syndrome AIRE
Síndromes miastênicas congênitas Congenital Myasthenic Syndromes CHAT
Síndromes miastênicas congênitas Congenital Myasthenic Syndromes CHRNA1
Síndromes miastênicas congênitas Congenital Myasthenic Syndromes CHRNB1
Síndromes miastênicas congênitas Congenital Myasthenic Syndromes CHRND
Síndromes miastênicas congênitas Congenital Myasthenic Syndromes CHRNE
Síndromes miastênicas congênitas Congenital Myasthenic Syndromes DOK7
Síndromes miastênicas congênitas Congenital Myasthenic Syndromes RAPSN
Surdez hereditária Inherited Deafness COL11A2
Surdez hereditária Inherited Deafness, Top Genes GJB2
Surdez hereditária Inherited Deafness, Top Genes GJB3
Surdez hereditária Inherited Deafness, Top Genes GJB6
Surdez hereditária Inherited Deafness KCNQ4
Susceptibilidade à hipertermia malígna Malignant Hyperthermia Susceptibility RYR1
Talassemia alfa Alpha-Thalassemia – Southeast Asia HBA2
Taquicardia ventricular catecolaminérgica polimórfica Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) CASQ2
Telangiectasia hemorrágica hereditária Hereditary Hemorrhagic Telangiectasia ENG
Tetralogia de Fallot Tetralogy of Fallot NKX2-5
Trimeltilaminúria Trimethylaminuria FMO3
Tumor de Wilms Wilms Tumor, Classical GPC3
Tumor de Wilms Wilms Tumor, Classical WT1
Xantomatose cerebrotendinosa Cerebrotendinous Xanthomatosis CYP27A1
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
GENOTIPAGEM KIR (killer Immunoglobulin-like receptor) – PCR tempo real
GENOTIPAGEM KIR  + HLA-C Paterno( antigeno leucocitário humano) – PCR tempo real
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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