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Desordens Genéticas Nome Modelo Idade 40 Sexo F Data De Emissão 10-04-2020 Desordens Genéticas Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo Nossa metodologia: Sequenciamento do Genoma Inteiro Humano - WGS O WGS está inaugurando uma nova era, a da verdadeira Medicina Personalizada, Preditiva e Preventiva, ao realizar o sequenciamento do genoma total. A tecnologia WGS, utilizada pela FULLDNA, permite, a partir de resultados indiscutíveis, detalhados e específicos de variantes genéticas, a criação de uma Identidade Genética Personalizada de cada pessoa, composta de suas Características, Necessidades e Suscetibilidades genéticas, além de se poder gerar, a partir das análises, Tratamentos Geneticamente Personalizados, pois os avanços com a tecnologia WGS já estão permitindo a orientação de tratamentos para cânceres comuns (como câncer colorretal e melanoma) e determinação de quais medicamentos são seguros (e quais não são) para cada pessoa. A WGS é uma excepcional inovação tecnológica por executar o sequenciamento do genoma inteiro com expressiva eficiência. Quando comparado com tecnologias parciais de DNA autossômico, como o teste de DNA autossômico com microarrays ou sequenciamento de exoma (1% do genoma), a tecnologia WGS da FULLDNA fornece 3.000 vezes mais informações por fornecer dados sobre todos os seis bilhões de pares de bases do genoma humano. Ela fornece cobertura completa das regiões codificadoras e não codificadoras do genoma e variantes de um único nucleotídeo, inserções/deleções, alterações no número de cópias e grandes variantes estruturais, além da determinação das variações no número de cópias, rearranjos e outras variações estruturais. Com a utilização da tecnologia WGS, a FULLDNA realiza hoje a análise mais completa e única no mundo, o que oferece ao profissional de saúde e a cada pessoa um potencial preditivo e preventivo também único. Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo Como interpretar: Os resultados são divididos em Características, Necessidades e Suscetibilidades. Cada divisão apresenta categorias para facilitar a interpretação. Este relatório é apresentado em duas partes, assim como os gráficos: PRIMEIRA PARTE: A primeira parte interpreta as magnitudes de cada condição, através de um algoritmo que considera os seguintes aspectos: Presença ou Ausência do Polimorfismo Quantidade de Polimorfismos presentes para a condição Magnitude de cada Polimorfismo Validação da Base Científica Devido às casas decimais das magnitudes dos resultados que devem ser rigorosamente levadas em consideração nos resultados, apresentamos divisões em forma de cores, a seguir: indica que o resultado apresentado é BAIXO indica que o resultado apresentado é NORMAL indica que o resultado apresentado é MÉDIO- NORMAL indica que o resultado apresentado é MÉDIO-ALTO indica que o resultado apresentado é ALTO indica que não foi detectado polimorfismos ou ausência de sólida comprovação científica. A diferenciação entre BAIXO e NORMAL é imprescindível. Resultado NORMAL se refere muitas vezes à maioria da população, na qual a incidência de Necessidades ou Suscetibilidades é considerada normal. Resultado BAIXO se refere a predisposição à carência ou baixa suscetibilidade, o que não é o mesmo que suscetibilidade normal. Se o resultado gráfico aparecer na tonalidade cinza, indica que o polimorfismo (ou polimorfismos) relativos à condição específica não foram detectados, ou ainda, que não existem até a data do relatório, comprovações científicas sólidas que justifiquem um resultado. Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo SEGUNDA PARTE: A segunda parte do relatório trata-se de um desmembramento da primeira parte, ou seja, apresenta em pormenores os scores, tais como o Genes, o Genótipo (resultado do paciente, homozigose, heterozigose), Alelo de Risco e, dentro de uma pequena esfera, a cor correspondente ao resultado obtido por polimorfismo, como segue: indica Característica, Necessidade ou Suscetibilidade BAIXA indica Característica, Necessidade ou Suscetibilidade NORMAL indica Característica, Necessidade ou Suscetibilidade MÉDIA-NORMAL indica Característica, Necessidade ou Suscetibilidade MÉDIA-ALTA indica Característica, Necessidade ou Suscetibilidade ALTA indica quando não foi detectado o(s) Polimorfismo(s) ou ausência de sólida comprovação científica. A bibliografia que é apresentada na sequência indica as fontes de referência, organizada pelos genes correspondentes aos polimorfismos apresentados. Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo RESUMO DOS RESULTADOS SUSCETIBILIDADES Sistema Hematológico Talassemia Beta Hemocromatose Síndrome Hemolítico-urêmica atípica (SHUa) Anemia de Fanconi Afibrinogenemia Talassemia Beta Intermediária Agamaglobulinemia ligada ao X Anemia Diseritropoiética Congênita Deficiência em Glicose-6-Fosfato Desidrogenase (G6PD) Hemofilia A Estomatocitose Hereditária Hemofilia - Deficiência do Fator VIII Sistema Urinário Doença do Rim Policístico (DRP) Síndrome de Bartter Agenesia Renal Doenças Neurodegenerativas Hipoventilação Central Congênita Doença de Huntington Doença de Tay-Sachs Ataxia Espinocerebelar Doença de Charcot-Marie Síndrome de Louis-Bar (Ataxia Telangiectasia) Doença de Pick Doença de Canavan Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo Distonia de Torção Cardiovasculares Bloqueio Cardíaco Familiar Progressivo Síndrome de Romano-Ward Síndrome do Nódulo Sinusal Cardiomiopatia Hipertrófica familiar Hiperlipoproteinemia Familiar Tipo III Síndrome de Brugada Câncer Síndrome de Lynch Neoplasia Colorretal (Familiar) Síndrome da Predisposição Hereditária ao Câncer Neoplasia de Mama (Familiar) Retinoblastoma Síndrome da predisposição a tumor (BAP1) Síndrome de Li-Fraumeni Tirosinemia Hereditária Tipo 1 Síndrome de Cowden BAP1 - Síndrome de Predisposição a Tumor Pele Candidíase Familiar Síndrome de KID Protoporfíria Eritropoiética Síndrome de Ehlers Danlos (colágeno) Desordens Metabólicas Homocistinúria Deficiência de Adenosina Monofosfato Desaminase Deficiência em Mioadenilato Desaminase Porfíria Aguda Intermitente Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo Porfíria Variegata Síndrome de Sanfilippo Deficiência do Complexo Mitocondrial 1 Acidemia Metilmalônica Frutosemia Doenças Genéticas Pseudo deficiência de Arisulfatase A Síndrome de Hurler Hiperecplexia Síndrome de Proteus Síndrome do Câncer de Mama e Ovário Hereditário Síndrome de Werner Síndrome de Hermansky-Pudlak - 4 Leucodistrofia Metacromática Deficiência de Alfa Antitripsina (AAT) Disautonomia Familiar (Síndrome de Riley-Day) Displasia Ectodérmica Hipohidrótica Rasopatias Síndrome de Alport Síndrome de Blau Síndrome de Down Polineuropatia Amiloidótica Familiar (PAF) Hipobetalipoproteinemia familiar Polipose Adenomatosa Familiar Síndrome de Axenfeld Rieger Síndrome de Carpenter Síndrome de Hermansky-Pudlak - 1 Síndrome de Hermansky-Pudlak - 6 Síndrome de Hiperimunoglobulina E (Hiper IgE) Síndrome de Incontinência Pigmentar Síndrome de Kindler Síndrome de Pfeiffer Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo Síndrome de Schaaf-Yang Síndrome de Schwartz Jampel Tipo 1 Síndrome de Upshaw Schulman Síndrome de Van der Woude Síndrome de Wiskott-Aldrich Síndrome do Hamartoma Tumoral PTEN Doença de Fabry Doença de Gaucher Tipo 1 Mucopolissacaridose Síndrome de Bardet-Biedl Síndrome de Cohen Síndrome de Bloom Mucolipidose Tipo 4 (Gangliosidose) Doença da Urina do Xarope de Bordo (Leucinose) Deficiência de Alfa-1 Antitripsina Síndrome de Zellweger Síndrome de Smith-Lemli-Opitz Síndrome de Joubert Deficiência Múltipla da Sulfatase (Doença de Austin) Hipoplasia Pontocerebelar Síndrome de Walker-Warburg Síndrome de Noonan Síndrome de Doors Síndrome de Morquio Acondroplasia Síndrome de Blefarofimose Adrenoleucodistrofia Mucopolissacaridose Tipo II Mucopolissacaridose Tipo IIIB Mucopolissacaridose Tipo IVA Sindrome de Hiperornitinemia-Hiperamonemia-Homocitrulinúria Deficiência Familiar de Glicocorticóide (DFG) Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo Dificência de Quinase Desidrogenase de Aminoácidos de Cadeia Ramificada Doença de Wilson Amiloidose Hereditária mediada por transtirretina (TTR) Febre Mediterrânea Familiar Febre Periódica Familiar Síndrome da Deficiência da Ligase 4 (LIG4) Síndrome de Lucey-Driscoll Sistema Reprodutor Síndrome do Ovário Policístico Deficiência de Aromatase Síndrome de Perrault Necessidade de Vitaminas Deficiência de Biotinidase Sistema Digestivo Colestase Intra-Hepática Familiar Síndrome do Cólon Irritável Fibrose Cística Síndrome de Dubin-Johnson Diarreia Familiar Colestase Intra-Hepática Progressiva Tipo 2 Colestase Intra-Hepática Progressiva Tipo 3 Colestase Intra-Hepática Progressiva Tipo 1 Colestase Intra-Hepática Progressiva Tipo 4 Deficiência Congênita de Lactase Diarreia Congênita Síndrome da Polipose Juvenil Síndrome Trico-hepato-entérico (THE) Sistema Imunológico Nome Modelo Idade 40 Sexo F Data de Emissão 10-04-2020 Prescritor Modelo Convenio Modelo Síndrome da Imunodeficiência Severa Combinada Porfíria Eritropoiética Congênita (Doença de Gunther) Síndrome Linfoproliferativa Autoimune (ALPS) Síndrome Linfoproliferativa 2 - ligada ao X Síndrome Linfoproliferativa 1 - ligada ao X Linfo-histiocitose hemofagocítica familiar (HLH) Sistema Auditivo Síndrome da Surdez Súbita Síndrome de Usher Surdez Não-Sindrômica Visão (Oftalmo) Síndrome
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