{"id":252,"date":"2022-03-15T13:59:34","date_gmt":"2022-03-15T18:59:34","guid":{"rendered":"https:\/\/www.infomedicintl.com\/?page_id=252"},"modified":"2022-03-15T13:59:34","modified_gmt":"2022-03-15T18:59:34","slug":"ngs-listado-de-enfermedades-detectables-por-ngs","status":"publish","type":"page","link":"https:\/\/www.infomedicintl.com\/index.php\/ngs-listado-de-enfermedades-detectables-por-ngs\/","title":{"rendered":"NGS &#8211; Listado de enfermedades detectables por NGS"},"content":{"rendered":"\n<p>Acidemia Argininosucc\u00ednica<br>Acidemia Glut\u00e1rica Tipo I<br>Acidemia Glut\u00e1rica Tipo II<br>Acidemia isoval\u00e9rica<br>Acidemia metilmal\u00f3nica<br>Acidemia metilmal\u00f3nica y homocistinuria combinadas<br>Acidemia propi\u00f3nica<br>Aciduria 3-metilglutac\u00f3nica<br>Aciduria combinada mal\u00f3nica y metilmal\u00f3nica<br>Acil-Coenzima A deshidrogenasa de cadena muy larga<br>Agammaglobulinemia ligada al X<br>Ataxia-Telangiectasia ATM<br>Atrofia giratoria de la coroides y la retina<br>Citrulinemia tipo I<br>Complejo de esclerosis tuberosa<br>Deficiencia de 2,4-dienoil-CoA reductasa<br>Deficiencia de 2-Metil-3-Hidroxibutiril-CoA Deshidrogenasa<br>Deficiencia de 2-Metilbutiril-CoA Deshidrogenasa<br>Deficiencia de 3-cetoacil-CoA tiolasa de cadena media<br>Deficiencia de 3-hidroxi-3-metilglutaril-CoA liasa<br>Deficiencia de 3-hidroxiacil-CoA deshidrogenasa<br>Deficiencia de 3-Hidroxiacil-CoA deshidrogenasa de cadena larga<br>Deficiencia de 3-Metilcrotonil-CoA Carboxilasa<br>Deficiencia de Acil-CoA deshidrogenasa de cadena corta<br>Deficiencia de Acil-Coenzima A Deshidrogenasa de Cadena Media<br>Deficiencia de arginasa<br>Deficiencia de Beta-Cetotiolasa<br>Deficiencia de carbamoil fosfato sintetasa I<br>Deficiencia de carnitina palmitoiltransferasa 1A<br>Deficiencia de carnitina palmitoiltransferasa II<br>Deficiencia de carnitina primaria sist\u00e9mica<br>Deficiencia de carnitina-acilcarnitina translocasa<br>Deficiencia de citrina<br>Deficiencia de glucosa-6-fosfato deshidrogenasa<br>Deficiencia de Isobutiril-CoA Deshidrogenasa<br>Deficiencia de Malonil-CoA Decarboxilasa<br>Deficiencia de N-acetilglutamato sintasa<br>Deficiencia de ornitina transcarbamilasa<br>Deficiencia de prote\u00ednas trifuncionales<br>Deficiencia de tetrahidrobiopterina<br>Deficiencia m\u00faltiple de carboxilasa<br>Encefalopat\u00eda etilmal\u00f3nica<br>Enfermedad de Fabry<br>Enfermedad de Krabbe<br>Enfermedad de la orina de jarabe de arce<br>Enfermedad de Menkes<br>Enfermedad de Niemann-Pick<br>Enfermedad de Wilson<br>Enfermedad del Almacenamiento de Gluc\u00f3geno Tipo Ia<br>Enfermedad del Almacenamiento de Gluc\u00f3geno Tipo Ib<br>Enfermedad del Almacenamiento de Gluc\u00f3geno Tipo II(Pompe<br>Enfermedad linfoproliferativa ligada al X<br>Fenilcetonuria<br>Fibrosis qu\u00edstica<br>Galactosemia<br>Hipercolesterolemia familiar<br>Hiperglicinemia no cet\u00f3sica<br>Hipermetioninemia<br>Hiperornitinemia-Hiperamonemia-Homocitrulinuria<br>Hipertermia maligna<br>Hipertrigliceridemia<br>Hipervalinemia<br>Hipoplasia capilar cartilaginosa<br>Histidinemia<br>Homocistinuria<br>Inmunodeficiencia combinada grave<br>Intolerancia hereditaria a la fructosa<br>Linfohistiocitosis Hemofagoc\u00edtica Familiar<br>Mucopolisacaridosis tipo I<br>Mucopolisacaridosis tipo II<br>Mucopolisacaridosis tipo IV<br>Mucopolisacaridosis tipo VI<br>Neutropenia relacionada con ELANE ELANE<br>P\u00e9rdida de audici\u00f3n y sordera no sindr\u00f3mica<br>S\u00edndrome de Chediak-Higashi LYST<br>S\u00edndrome de Dravet (Epilepsia miocl\u00f3nica grave de<br>S\u00edndrome de Griscelli Tipo 2<br>S\u00edndrome de Hermansky-Pudlak tipo 2<br>S\u00edndrome de Hiper IgE Autos\u00f3mico Dominante<br>S\u00edndrome de hiper IgM<br>S\u00edndrome de Rotura de Nijmegen<br>S\u00edndrome de Wiskott-Aldrich WAS XR<br>S\u00edndromes de deficiencia de creatina<br>Sitosterolemia<br>Tirosinemia tipo I<br>Tirosinemia tipo II<br>Tirosinemia tipo III<\/p>\n\n\n\n<p><strong>English version<\/strong><\/p>\n\n\n<p>Argininosuccinic Acidemia<br \/>Glutaric Acidemia Type I<br \/>Glutaric Acidemia Type II<br \/>Isovaleric Acidemia<br \/>Methylmalonic Acidemia<br \/>Combined Methylmalonic Acidemia and Homocystinuria<br \/>Propionic Acidemia<br \/>3-Methylglutaconic Aciduria<br \/>Combined Malonic and Methylmalonic Aciduria<br \/>Very Long-Chain Acyl-Coenzyme A Dehydrogenase<br \/>X-linked Agammaglobulinemia<br \/>Ataxia-Telangiectasia ATM<br \/>Gyrate Atrophy of Choroid and Retina<br \/>Citrullinemia Type I<br \/>Tuberous Sclerosis Complex<br \/>2,4-Dienoyl-CoA Reductase Deficiency<br \/>2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency<br \/>2-Methylbutyryl-CoA Dehydrogenase Deficiency<br \/>Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency<br \/>3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency<br \/>3-Hydroxyacyl-CoA Dehydrogenase Deficiency<br \/>Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency<br \/>3-Methylcrotonyl-CoA Carboxylase Deficiency<br \/>Short-Chain Acyl-CoA Dehydrogenase Deficiency<br \/>Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency<br \/>Arginase Deficiency<br \/>Beta-Ketothiolase Deficiency<br \/>Carbamoyl Phosphate Synthetase I Deficiency<br \/>Carnitine Palmitoyltransferase 1A Deficiency<br \/>Carnitine Palmitoyltransferase II Deficiency<br \/>Systemic Primary Carnitine Deficiency<br \/>Carnitine-acylcarnitine Translocase Deficiency<br \/>Citrin Deficiency<br \/>Glucose-6-Phosphate Dehydrogenase Deficiency<br \/>Isobutyryl-CoA Dehydrogenase Deficiency<br \/>Malonyl-CoA Decarboxylase Deficiency<br \/>N-Acetylglutamate Synthase Deficiency<br \/>Ornithine Transcarbamylase Deficiency<br \/>Trifunctional Protein Deficiency<br \/>Tetrahydrobiopterin Deficiency<br \/>Multiple Carboxylase Deficiency<br \/>Ethylmalonic Encephalopathy<br \/>Fabry Disease<br \/>Krabbe Disease<br \/>Maple Syrup Urine Disease<br \/>Menkes Disease<br \/>Niemann-Pick Disease<br \/>Wilson Disease<br \/>Glycogen Storage Disease Type Ia<br \/>Glycogen Storage Disease Type Ib<br \/>Glycogen Storage Disease Type II(Pompe<br \/>X-linked Lymphoproliferative Disease<br \/>Phenylketonuria<br \/>Cystic Fibrosis<br \/>Galactosemia<br \/>Familial Hypercholesterolemia<br \/>Nonketotic Hyperglycinemia<br \/>Hypermethioninemia<br \/>Hyperornithinemia-Hyperammonemia-Homocitrullinuria<br \/>Malignant Hyperthermia<br \/>Hypertriglyceridaemia<br \/>Hypervalinemia<br \/>Cartilage Hair Hypoplasia<br \/>Histidinemia<br \/>Homocystinuria<br \/>Severe Combined Immunodificiency<br \/>Hereditary Fructose Intolerance<br \/>Familial Hemophagocytic Lymphohistiocytosis<br \/>Mucopolysaccharidosis Type I<br \/>Mucopolysaccharidosis Type II<br \/>Mucopolysaccharidosis Type IV<br \/>Mucopolysaccharidosis Type VI<br \/>ELANE-Related Neutropenia ELANE<br \/>Nonsyndromic Hearing Loss and Deafness<br \/>Chediak-Higashi Syndrome LYST<br \/>Dravet Syndrome(Severe Myoclonic Epilepsy of<br \/>Griscelli Syndrome Type 2<br \/>Hermansky-Pudlak Syndrome Type 2<br \/>Autosomal Dominant Hyper IgE Syndrome<br \/>Hyper IgM Syndrome<br \/>Nijmegen Breakage Syndrome<br \/>Wiskott-Aldrich Syndrome WAS XR<br \/>Creatine Deficiency Syndromes<br \/>Sitosterolemia<br \/>Tyrosinemia Type I<br \/>Tyrosinemia Type II<br \/>Tyrosinemia Type III<\/p>\n<p>\u00a0<\/p>\n<p>\u00a0<\/p>\n<p>\u00a0<\/p>\n<p><style>\n<!--table\n\t{mso-displayed-decimal-separator:\"\\.\";\n\tmso-displayed-thousand-separator:\"\\,\";}\n@page\n\t{margin:.75in .7in .75in .7in;\n\tmso-header-margin:.3in;\n\tmso-footer-margin:.3in;}\ntr\n\t{mso-height-source:auto;}\ncol\n\t{mso-width-source:auto;}\nbr\n\t{mso-data-placement:same-cell;}\ntd\n\t{padding-top:1px;\n\tpadding-right:1px;\n\tpadding-left:1px;\n\tmso-ignore:padding;\n\tcolor:black;\n\tfont-size:11.0pt;\n\tfont-weight:400;\n\tfont-style:normal;\n\ttext-decoration:none;\n\tfont-family:Calibri, sans-serif;\n\tmso-font-charset:0;\n\tmso-number-format:General;\n\ttext-align:general;\n\tvertical-align:bottom;\n\tborder:none;\n\tmso-background-source:auto;\n\tmso-pattern:auto;\n\tmso-protection:locked visible;\n\twhite-space:nowrap;\n\tmso-rotate:0;}\n--><br \/>\n<\/style><\/p>\n<p>\u00a0<\/p>\n<p>\u00a0<\/p>\n<p>\u00a0<\/p>\n<p>\u00a0<\/p>\n<p><!--EndFragment--><\/p>\n<table style=\"border-collapse: collapse; width: 48pt;\" border=\"0\" width=\"64\" cellspacing=\"0\" cellpadding=\"0\"><!--StartFragment--> <colgroup><col style=\"width: 48pt;\" width=\"64\" \/> <\/colgroup>\n<tbody>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt; width: 48pt;\" width=\"64\" height=\"20\">Argininosuccinic<br \/>Acidemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Glutaric Acidemia Type I<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\"><!-- \/wp:post-content --><!-- wp:paragraph -->Glutaric<br \/>Acidemia Type II<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Isovaleric Acidemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Methylmalonic Acidemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Combined Methylmalonic Acidemia and<br \/>Homocystinuria<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Propionic Acidemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\"><!-- \/wp:paragraph --><!-- wp:paragraph -->3-Methylglutaconic<br \/>Aciduria<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Combined Malonic and Methylmalonic<br \/>Aciduria<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Very Long-Chain Acyl-Coenzyme A<br \/>Dehydrogenase<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">X-linked Agammaglobulinemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Ataxia-Telangiectasia ATM<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Gyrate Atrophy of Choroid and Retina<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Citrullinemia Type I<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Tuberous Sclerosis Complex<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">2,4-Dienoyl-CoA Reductase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">2-Methyl-3-Hydroxybutyryl-CoA<br \/>Dehydrogenase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">2-Methylbutyryl-CoA Dehydrogenase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Medium Chain 3-Ketoacyl-CoA Thiolase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">3-Hydroxy-3-Methylglutaryl-CoA Lyase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">3-Hydroxyacyl-CoA Dehydrogenase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Long-Chain 3-Hydroxyacyl-CoA<br \/>Dehydrogenase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">3-Methylcrotonyl-CoA Carboxylase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Short-Chain Acyl-CoA Dehydrogenase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Medium-Chain Acyl-Coenzyme A<br \/>Dehydrogenase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Arginase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Beta-Ketothiolase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Carbamoyl Phosphate Synthetase I<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Carnitine Palmitoyltransferase 1A<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Carnitine Palmitoyltransferase II<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Systemic Primary Carnitine Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Carnitine-acylcarnitine Translocase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Citrin Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Glucose-6-Phosphate Dehydrogenase<br \/>Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Isobutyryl-CoA Dehydrogenase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Malonyl-CoA Decarboxylase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">N-Acetylglutamate Synthase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Ornithine Transcarbamylase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Trifunctional Protein Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Tetrahydrobiopterin Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Multiple Carboxylase Deficiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Ethylmalonic Encephalopathy<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Fabry Disease<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Krabbe Disease<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Maple Syrup Urine Disease<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Menkes Disease<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Niemann-Pick Disease<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Wilson Disease<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Glycogen Storage Disease Type Ia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Glycogen Storage Disease Type Ib<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Glycogen Storage Disease Type II(Pompe<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">X-linked Lymphoproliferative Disease<\/td>\n<\/tr>\n<tr style=\"height: 25.5pt;\">\n<td style=\"height: 25.5pt;\" height=\"34\"><!-- wp:paragraph -->Phenylketonuria<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Cystic Fibrosis<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Galactosemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Familial Hypercholesterolemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Nonketotic Hyperglycinemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Hypermethioninemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Hyperornithinemia-Hyperammonemia-Homocitrullinuria<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Malignant Hyperthermia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Hypertriglyceridaemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Hypervalinemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Cartilage Hair Hypoplasia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Histidinemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Homocystinuria<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Severe Combined Immunodificiency<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Hereditary Fructose Intolerance<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Familial Hemophagocytic<br \/>Lymphohistiocytosis<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Mucopolysaccharidosis Type I<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Mucopolysaccharidosis Type II<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Mucopolysaccharidosis Type IV<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Mucopolysaccharidosis Type VI<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">ELANE-Related Neutropenia ELANE<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Nonsyndromic Hearing Loss and Deafness<!-- \/wp:paragraph --><\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Chediak-Higashi Syndrome LYST<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Dravet Syndrome(Severe Myoclonic Epilepsy<br \/>of<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Griscelli Syndrome Type 2<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Hermansky-Pudlak Syndrome Type 2<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Autosomal Dominant Hyper IgE Syndrome<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Hyper IgM Syndrome<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Nijmegen Breakage Syndrome<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Wiskott-Aldrich Syndrome WAS XR<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Creatine Deficiency Syndromes<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Sitosterolemia<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Tyrosinemia Type I<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Tyrosinemia Type II<\/td>\n<\/tr>\n<tr style=\"height: 15.0pt;\">\n<td style=\"height: 15.0pt;\" height=\"20\">Tyrosinemia Type III<\/td>\n<\/tr>\n<\/tbody>\n<\/table>","protected":false},"excerpt":{"rendered":"<p>Acidemia Argininosucc\u00ednicaAcidemia Glut\u00e1rica Tipo IAcidemia Glut\u00e1rica Tipo IIAcidemia isoval\u00e9ricaAcidemia metilmal\u00f3nicaAcidemia metilmal\u00f3nica y homocistinuria combinadasAcidemia propi\u00f3nicaAciduria 3-metilglutac\u00f3nicaAciduria combinada mal\u00f3nica y metilmal\u00f3nicaAcil-Coenzima A deshidrogenasa de cadena muy largaAgammaglobulinemia ligada al XAtaxia-Telangiectasia ATMAtrofia giratoria de la coroides y la retinaCitrulinemia tipo IComplejo de esclerosis tuberosaDeficiencia de 2,4-dienoil-CoA reductasaDeficiencia de 2-Metil-3-Hidroxibutiril-CoA DeshidrogenasaDeficiencia de 2-Metilbutiril-CoA DeshidrogenasaDeficiencia de 3-cetoacil-CoA tiolasa de &hellip; <a href=\"https:\/\/www.infomedicintl.com\/index.php\/ngs-listado-de-enfermedades-detectables-por-ngs\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> &#8220;NGS &#8211; Listado de enfermedades detectables por NGS&#8221;<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_sb_is_suggestion_mode":false,"_sb_show_suggestion_boards":false,"_sb_show_comment_boards":false,"_sb_suggestion_history":"","_sb_update_block_changes":"","footnotes":""},"class_list":["post-252","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages\/252","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/comments?post=252"}],"version-history":[{"count":1,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages\/252\/revisions"}],"predecessor-version":[{"id":253,"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/pages\/252\/revisions\/253"}],"wp:attachment":[{"href":"https:\/\/www.infomedicintl.com\/index.php\/wp-json\/wp\/v2\/media?parent=252"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}