LÍNEA DE DIAGNÓSTICO

Transcripción

1 LÍNEA DE DIAGNÓSTICO

2 SERVICIOS GENÉTICOS INTEGRALES GENETEST forma parte de Total Quality Medicine, empresa 100% mexicana especializada en brindar servicios relacionados con la salud. Es la única compañía del área que oferta pruebas genéticas, las cuales, integran el análisis clínico del paciente para la generación de recomendaciones personalizadas diseñadas por especialistas. Nuestros servicios fueron diseñados para brindar soluciones en salud basadas en la información genética de cada individuo. Contamos con la representación exclusiva de los laboratorios líderes en el área que cuentan con certificaciones internacionales las cuales aseguran la calidad de los resultados. Nuestro equipo humano de alta calidad ha desarrollado diversas pruebas genéticas contenidas en este catálogo las cuales cuentan con patente de diseño. 2

3 La línea de diagnóstico incluye más de 700 pruebas enfocadas en la determinación de las principales variantes genéticas asociadas a más de 900 enfermedades hereditarias o enfermedades raras. LÍNEA DE DIAGNÓSTICO En esta línea contamos con un área de determinación de exoma clínico que permite encontrar variantes raras que pudieran ser el origen de padecimientos de difícil diagnóstico en familias que han heredado un padecimiento en común. Diversas enfermedades de difícil diagnóstico pueden estar relacionadas con procesos como la subfertilidad, una alta tasa de abortos espontáneos, e incluso, con el origen de malformaciones congénitas en recién nacidos. 3

4 GENETEST Dx son soluciones genéticas a través de pruebas e interpretación para el diagnóstico de enfermedades hereditarias a través de secuenciación de nueva generación. El catálogo incluye más de 900 enfermedades de origen genético y hereditario. Las cuales abarcan enfermedades relacionadas con distintas especialidades médicas como: cardiología, oncología e inmunología. Existen alrededor de 6000 enfermedades hereditarias, congénitas, raras, huérfanas o de diagnóstico difícil que están generalmente asociadas a rasgos genéticos específicos y a veces a variantes totalmente desconocidas. El diagnóstico de estas enfermedades requiere de asesoría especializada para la elección de la prueba más adecuada para el cuadro clínico observado. Por lo cual, nuestro servicio incluye consejería genética para la selección de la prueba más adecuada. Debido a que estas pruebas son costosas y requieren una interpretación certera, la elección de la prueba adecuada se vuelve muy importante. 4

5 GENETEST Dx es el único servicio en el cual se tiene más de 700 pruebas y paneles para el diagnóstico de enfermedades hereditarias. Nuestros paneles están diseñados para brindar soluciones en cualquiera de las especialidades médicas en las cuales una prueba genética se vuelva esencial. Con la posibilidad de detectar hasta 900 padecimientos y variaciones hasta en los 20 mil genes del genoma humano, Dx es la posibilidad real de obtener las respuestas a esos padecimientos de difícil diagnóstico o a enfermedades que han afectado a familias por generaciones. GENETEST Dx también se vuelve una herramienta importante para la investigación en casos clínicos ya que con nuestras plataformas de análisis y de anotaciones a nivel mundial ayudan al descubrimiento de asociaciones entre enfermedades y variantes genéticas patológicas en diferentes poblaciones. El conocer el origen de una enfermedad rara puede brindar tranquilidad a la persona que la padece y al médico tratante. 5

6 DIVISIONES GENETEST Dx ofrece el más amplio catálogo de pruebas dentro de las que tenemos las siguientes divisiones: 6

7 ONCOLOGY Dx ONCOLOGY: ofrece 50 paneles y pruebas para la determinación de variaciones en el ADN asociadas a diversos cánceres y síndromes de origen hereditario como síndrome de Lynch (34 genes) y cáncer de mama u ovario (BRCA1 y 2). También ofrecemos el panel más completo que analiza 94 genes asociados a diversos cánceres incluyendo pediátricos. 7

8 CARDIOLOGY Dx CARDIOLOGY: incluye 40 pruebas y paneles en el cual se incluyen los síndromes más comunes para este tipo de padecimientos así como el panel más completo de hasta 126 genes para diagnósticos difíciles. 8

9 NEUROLOGY Dx NEUROLOGY: incluye 158 pruebas y paneles dentro de los que podemos encontrar desde enfermedades de malformaciones congénitas del tracto neural hasta autismo o epilepsia. 9

10 PSYCHIATRY Dx PSYCHIATRY: incluye 28 pruebas y paneles dentro de los cuales se encuentran trastornos de personalidad y padecimientos del comportamiento. 10

11 IMMUNOLOGY Dx IMMUNOLOGY: tiene 42 pruebas dentro de las cuales se encuentran síndromes causantes de deficiencias en el sistema inmune, asociados a alteraciones en las inmunoglobulinas y paneles para diagnósticos complicados que incluyen el análisis de hasta 90 genes. 11

12 METABOLICS Dx METABOLICS: cuenta con 377 pruebas y paneles asociados a enfermedades congénitas de deficiencia de nutrientes, alteraciones endocrinológicas y de sistemas como el renal, hepático, esquelético y la piel. Muchos de los genes estudiados en estos paneles están asociados a malformaciones congénitas. 12

13 EXOME Dx EXOME: incluye hasta 14 paneles en los que se evalúan distintos arreglos de genes hasta cubrir los 20 mil que componen el genoma humano. Las pruebas de exoma permiten determinar asociaciones entre variantes desconocidas con enfermedades de difícil diagnóstico. Este panel incluye la interpretación de las variantes encontradas y un reporte para entender dichas asociaciones. El médico o investigador podrá solicitar la determinación de mutaciones individuales, deleciones, duplicaciones y arreglos a la medida. 13

14 GENETEST Dx Incluye asesoría genética Se pueden utilizar diversos tipos de muestra dependiendo el estado del paciente, la edad y la prueba solicitada. Pueden ser sangre en EDTA, hisopos para raspado bucal, tarjetas FTA o incluso DNA aislado y congelado. Los tiempos de entrega dependen de la prueba solicitada y el análisis requerido para su interpretación pueden ir desde los 10 días hasta 45 días hábiles en paneles complejos o exoma completo. Los envíos están incluidos. No incluyen toma de muestra pero sí los insumos para la toma de muestra (kit). Si la prueba que necesitas no está en el catálogo podemos hacer sugerencias de los paneles de exoma que pueden servir para el diagnóstico. Tenderemos siempre una solución para sus preguntas genéticas. 14 Dx

15 LISTA DE ENFERMEDADES QUE PUEDEN ESTUDIARSE A T R AV É S D E N U E S T R O S SERVICIOS GENÓMICOS POR ESPECIALIDAD MÉDICA 15

16 Medical Specialties for which GENETEST Dx offers tests Simpson-Golabi-Behmel Syndrome (SGBS) Cardiac Disorders Sotos Syndrome Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Brugada Syndrome (BrS) Cardio-Facio-Cutaneous Syndrome Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) CHARGE Syndrome Congenital Heart Disorder due to Micro Del/Dup Syndrome DiGeorge syndrome Dilated Cardiomyopathy (DCM) Sudden Cardiac Arrest Sudden Unexplained Death Supravalvular Aortic Stenosis Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders Transthyretin Amyloidosis Velocardiofacial syndrome Williams-Beuren syndrome Wolff-Parkinson-White Syndrome Familial Hypercholesterolemia Disorders of Sex Differentiation Hereditary Hemorrhagic Telangiectasia (HHT) Holt-Oram syndrome Hypertrophic Cardiomyopathy (HCM) Left Ventricular Noncompaction (LVNC) Loeys-Dietz syndrome (LDS) Long QT Syndrome (LQTS) Lujan syndrome (LS) (Lujan-Fyns syndrome) Marfan Syndrome/LDS/Related Disorders Noonan Syndrome Noonan syndrome with multiple lentigines Oculo Facio Cardio Dental Syndrome Pulmonary Arterial Hypertension Short QT Syndrome (SQTS) Shprintzen-Goldberg syndrome Alpha-Hydroxylase/17,20-Lyase Deficiency 46,XY Disorder of Sex Development 46,XY Gonadal Dysgenesis (SRY-related) 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related) 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related) 5-Alpha Reductase Deficiency Adrenal Hypoplasia Congenita (AHC), X-linked Androgen Insensitivity Syndrome (AIS) Antley-Bixler Syndrome (ABS) Aromatase Deficiency Campomelic Dysplasia (CD) Cytochrome P450 Oxidoreductase (POR) Deficiency Smith-Lemli-Opitz Syndrome Testicular Feminization Syndrome (TFM)

17 Medical Specialties for which GENETEST Dx offers tests Hay-Wells Syndrome Dysmorphology Disorders Holoprosencephaly Alagille syndrome Antley-Bixler Syndrome (ABS) Axenfeld-Rieger Syndrome Bannayan-Riley-Ruvalcaba Syndrome Baraitser-Winter Syndrome Branchiootic Syndrome Branchiootorenal syndrome Campomelic Dysplasia (CD) Cardio-Facio-Cutaneous Syndrome CHARGE Syndrome Cherubism Chondrodysplasia Punctata (CDPX1) Clefting Syndrome Coffin-Lowry Syndrome (CLS) Cohen Syndrome Costello Syndrome Cowden Syndrome Craniofrontonasal syndrome Cutis Laxa, Autosomal Dominant Cytochrome P450 Oxidoreductase (POR) Deficiency DiGeorge syndrome Ectodermal Dysplasia Ectrodactyly Feingold Syndrome Genitopatellar syndrome Greig Cephalopolysyndactyly Syndrome HOXD13-Associated Limb Abnormalities Hypo-/Anhidrotic Ectodermal Dysplasia Kabuki syndrome (KS) Kallmann Syndrome Legius Syndrome Metachondromatosis Microphthalmia, Lenz Syndrome Noonan Syndrome Noonan syndrome with multiple lentigines Noonan-Like Syndrome Oculo Facio Cardio Dental Syndrome Oral-Facial-Digital syndrome Type 1 Pallister Hall syndrome (PHS) Popliteal Pterygium Syndrome Prader-Willi syndrome (PWS) Prolidase Deficiency Proteus Syndrome/Proteus-like Syndrome PTEN associated Macrocephaly/Autism Syndrome Rieger Syndrome Rubinstein-Taybi Syndrome (RSTS) Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) Simpson-Golabi-Behmel Syndrome (SGBS) Smith-Magenis Syndrome (SMS) Sotos Syndrome Split Hand - Split Foot Malformation Supravalvular Aortic Stenosis 17

18 Medical Specialties for which GENETEST Dx offers tests Treacher Collins Syndrome (TCS) Triphalangeal Thumb Polydactyly Van der Woude Syndrome Velocardiofacial syndrome Williams-Beuren syndrome Familial Isolated Hyperparathyroidism (FIHP) Familial Isolated Hypoparathyroidism (FIH) Familial Medullary Thyroid Cancer Hyperparathyroidism-Jaw Tumor Syndrome Hypocalcemia, Autosomal Dominant (ADH) Hypogonadotropic Hypogonadism (HH) Endocrine Disorders Maturity-Onset Diabetes of the Young (MODY) 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 46,XY Disorder of Sex Development 46,XY Gonadal Dysgenesis (SRY-related) 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related) 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related) 5-Alpha Reductase Deficiency Achalasia-Addisonianism-Alacrima Adrenal Hypoplasia Congenita (AHC), X-linked Allgrove Syndrome Androgen Insensitivity Syndrome (AIS) Antley-Bixler Syndrome (ABS) APECED Aromatase Deficiency Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy Multiple Endocrine Neoplasia 2A Multiple Endocrine Neoplasia 2B Multiple Endocrine Neoplasia Type 1 Neonatal Severe Primary Hyperparathyroidism (NSHPT) Paraganglioma Parathyroid Carcinoma Pendred Syndrome Permanent Neonatal Diabetes (PND) Pheochromocytoma Prader-Willi syndrome (PWS) Premature Ovarian Failure (POF) Septo-Optic Dysplasia Shwachman-Diamond Syndrome (SDS) Testicular Feminization Syndrome (TFM) Triple-A Syndrome Wermer syndrome Autoimmune Polyglandular Syndrome Carney Complex Eye Disorders Cytochrome P450 Oxidoreductase (POR) Deficiency DFNB4 Nonsyndromic Hearing Loss and Deafness Familial Hypocalciuric Hypercalcemia (FHH) Achromatopsia Aniridia Anophthalmia 18

19 Medical Specialties for which GENETEST Dx offers tests Anterior Segment Dysgenesis Axenfeld-Rieger Syndrome Best Vitelliform Macular Dystrophy Bestrophinopathy, Autosomal Recessive Bothnia retinal dystrophy Choroideremia Cone-Rod Dystrophy, Autosomal Dominant Cone-Rod Dystrophy, Autosomal Recessive Congenital Nystagmus, X-linked Congenital Stationary Night Blindness, Autosomal Dominant Congenital Stationary Night Blindness, Autosomal Recessive Congenital Stationary Night Blindness, X-Linked Enhanced S-Cone Syndrome Familial Exudative Vitreoretinopathy Newfoundland Rod-Cone Dystrophy Norrie Disease Oculo Facio Cardio Dental Syndrome Peter s Anomaly Retinitis Pigmentosa, Autosomal Dominant (adrp) Retinitis Pigmentosa, Autosomal Recessive (arrp) Retinitis Pigmentosa, X-linked Retinitis Punctata Albescens Retinoschisis, Juvenile X-Linked Rieger Syndrome Septo-Optic Dysplasia Stargardt Disease Usher Syndrome Vitreoretinochoroidopathy, Autosomal Dominant Foveomacular Vitelliform Dystrophy, Adult-onset Fundus Albipunctatus Hematologic Disorders Fundus Flavimaculatus Glaucoma, Juvenile Open Angle Glaucoma, Primary Congenital Glaucoma, Primary Open Angle Goldmann-Favre Syndrome Iris Hypoplasia Leber Congenital Amaurosis, Autosomal Dominant Leber Congenital Amaurosis, Autosomal Recessive Macular Dystrophy, Autosomal Dominant Macular Dystrophy, Autosomal Recessive Microphthalmia Microphthalmia, Lenz Syndrome Blackfan-Diamond Syndrome Cartilage-Hair Hypoplasia Chuvash Type Polycythemia Congenital Amegakaryocytic Thrombocytopenia (CAMT) Cyclic Neutropenia Dyskeratosis Congenita Hereditary Angioedema (HAE) Type I-II Hereditary Angioedema (HAE) Type III Hermansky-Pudlak Syndrome Hoyeraal-Hreidarsson Syndrome (HHS) Neutropenia, X-linked Severe Congenital Neutropenia 19

20 Medical Specialties for which GENETEST Dx offers tests Shwachman-Diamond Syndrome (SDS) Thrombocytopenia, X-linked Wiskott-Aldrich syndrome Multiple Endocrine Neoplasia 2B Multiple Endocrine Neoplasia Type 1 Nevoid basal cell carcinoma syndrome Ovarian Cancer Hereditary Cancer Syndromes Pancreatic Cancer Attenuated Familial Adenomatous Polyposis (AFAP) Bannayan-Riley-Ruvalcaba Syndrome Basal cell nevus syndrome Birt-Hogg-Dube Syndrome Bloom Syndrome Breast Cancer Colorectal Cancer Cowden Syndrome Endometrial Cancer Familial Adenomatous Polyposis (FAP) Familial Cutaneous Malignant Melanoma Familial Isolated Hyperparathyroidism (FIHP) Paraganglioma Parathyroid Carcinoma Peutz-Jeghers Syndrome Pheochromocytoma Pneumothorax, Primary Spontaneous Prostate Cancer Proteus Syndrome/Proteus-like Syndrome PTEN associated Macrocephaly/Autism Syndrome Renal Cancer Uterine Cancer Von Hippel-Lindau syndrome Wermer syndrome Familial Medullary Thyroid Cancer Fumarate Hydratase Deficiency Immunologic Disorders Gorlin Syndrome Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hyperparathyroidism-Jaw Tumor Syndrome Juvenile Polyposis Syndrome (JPS) Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT) Li-Fraumeni Syndrome (LFS) Lynch Syndrome Multiple Endocrine Neoplasia 2A Adenosine Deaminase Deficiency Agammaglobulinemia, X-linked APECED Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA) Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB) Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy Autoimmune Polyglandular Syndrome 20

21 Medical Specialties for which GENETEST Dx offers tests Bloom Syndrome Bruton type agammaglobulinemia Cartilage-Hair Hypoplasia Chronic Granulomatous Disease (CGD) Cyclic Neutropenia Severe Combined Immune Deficiency (XSCID), X-linked Severe Combined Immune Deficiency with Radiation Sensitivity Severe Congenital Neutropenia Thrombocytopenia, X-linked Wiskott-Aldrich syndrome Hereditary Angioedema (HAE) Type I-II Hereditary Angioedema (HAE) Type III Metabolic Disorders Hyper-IgD Syndrome Hyper-IgE Syndrome (HIES) Immunodeficiency Syndrome with Hyper-IgM Invasive Pneumococcal Disease IRAK4 Deficiency Jobs Syndrome Leukocyte Adhesion Deficiency Type 1 LIG4 Syndrome Neonatal Onset Multisystem Inflammatory Disease Netherton Syndrome Neutropenia, X-linked Neutrophil Immunodeficiency Syndrome Omenn Syndrome Purine Nucleoside Phosphorylase Deficiency Reticular Dysgenesis Severe Combined Immune Deficiency (SCID) Severe Combined Immune Deficiency (SCID), ADA Type Severe Combined Immune Deficiency (SCID), DCLRE1C Type Severe Combined Immune Deficiency (SCID), IL7R Type Severe Combined Immune Deficiency (SCID), JAK3 Type Severe Combined Immune Deficiency (SCID), RAG Type 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency 3-Methylglutaconic Aciduria Type I 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency Arginase Deficiency Argininosuccinic Aciduria Aspartylglucosaminuria Beta-Ketothiolase Deficiency Biotinidase Deficiency Canavan Disease Carnitine Acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase IA Deficiency Carnitine Palmitoyltransferase II (CPT2) Deficiency Citrin deficiency Classic Citrullinemia Cobalamin Metabolism and Related Disorders Combined Malonic and Methylmalonic Aciduria (CMAMMA) Combined Saposin Deficiency Dent Disease 2 21

22 Medical Specialties for which GENETEST Dx offers tests Dihydrolipoamide Dehydrogenase Deficiency Dihydropteridine Reductase (DHPR) Deficiency Dopa-Responsive Dystonia Ethylmalonic Encephalopathy Fabry Disease Familial Amyloid Polyneuropathy Fatty Acid Oxidation Disorders Free Sialic Acid Storage Disorders Fucosidosis Fumarate Hydratase Deficiency Galactokinase deficiency Galactosemia Glutaric Aciduria Type I Glutaric Aciduria Type II Glycerol Kinase Deficiency Glycogen Storage Disease Type II Glycogen Storage Disease Type V (GSD V) GM1-Gangliosidosis GTP Cyclohydrolase I Deficiency Hawkinsinuria HMG-CoA Lyase Deficiency Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency Homocystinuria due to Cystathionine Beta-Synthase Deficiency Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency Hyperammonemia Related Disorders Infantile Parkinsonism, Autosomal Recessive Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia Krabbe Disease Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Lowe Syndrome (Oculocerebrorenal syndrome of Lowe) Lysosomal Acid Lipase Deficiency Malonyl-CoA Decarboxylase Deficiency Maple Syrup Urine Disease (MSUD) Maple Syrup Urine Disease, Type III Maroteaux-Lamy Syndrome McArdle Disease Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Metabolic Myopathy Metachromatic Leukodystrophy Methionine Adenosyltransferase I/III Deficiency Methylmalonic Acidemia Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblc) Type Morquio B Disease Morquio Syndrome A Mucolipidosis I Mucolipidosis IV Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type IVB Mucopolysaccharidosis VI (MPSVI) Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Multiple Sulfatase Deficiency N-Acetylglutamate Synthase Deficiency (NAGS) 22

23 Medical Specialties for which GENETEST Dx offers tests Neuronal Ceroid-Lipofuscinosis 2 (CLN2) Niemann-Pick Disease, Type C Mitochondrial Disorders Niemann-Pick Disease, Types A and B Ornithine Transcarbamylase (OTC) Deficiency Phenylketonuria Pompe Disease Primary/Systemic Carnitine Deficiency Propionic Acidemia Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase E1-Alpha Deficiency Pyruvate Dehydrogenase E1-Beta Deficiency Salla Disease Sandhoff Disease Sanfilippo Syndrome A, B, C and D Saposin A Deficiency Saposin B Deficiency Saposin C Deficiency Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency Sialidosis Smith-Lemli-Opitz Syndrome Tay-Sachs Disease Tyrosine Hydroxylase Deficiency Tyrosinemia Type I Tyrosinemia type II Tyrosinemia type III Urea Cycle Disorders Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency 2,4-Dienoyl-CoA Reductase Deficiency (DECRD) 3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH) 3-Methylglutaconic Aciduria Type VII (MGCA7) Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR) Alpers syndrome (Alpers-Huttenlocher syndrome) Alpha-Methylacyl-CoA Racemase Deficiency Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2N) Benign Recurrent Intrahepatic Cholestasis-2 (BRIC2) Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Carnitine Acylcarnitine Translocase Deficiency Cerebral Creatine Deficiency Syndrome-1 (CCDS1) Charcot-Marie-Tooth Disease, Type 2A2 Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO) Chronic Progressive External Ophthalmoplegia (CPEO) Combined D-2- and L-2-Hydroxyglutaric Aciduria Complex I Deficiency Complex II Deficiency (MT-C2D) Complex III Deficiency Complex IV(Cytochrome C Oxidase) Deficiency Complex V (ATP Synthesis) Deficiency Congenital Disorder of Glycosylation Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD) Diabetes and Hearing Loss Dimethylglycine Dehydrogenase Deficiency 23

24 Medical Specialties for which GENETEST Dx offers tests Fanconi-Bickel Syndrome Glutathione Synthetase Deficiency (GSSD) Glycogen Storage Disease 0, Muscle (GSD0B) Glycogen Storage Disease IIIa; Glycogen Storage Disease IIIb Glycogen Storage Disease IV Glycogen Storage Disease IXc (GSD9C) Glycogen Storage Disease IXd (GDS9D) Glycogen Storage Disease Type IXa Glycogen Storage Disease Type IXb (GSD9B) Glycogen Storage Disease VII (GSD7) Glycogen Storage Disease X (GSD10) Glycogen Storage Disease XI (GSD11) Glycogen Storage Disease XII (GSD12) Glycogen Storage Disease XIII (GSD13) Glycogen Storage Disease XV (GSD15) Hereditary Fructose Intolerance Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD) Intrahepatic Cholestasis of Pregnancy Kearns-Sayre Syndrome (KSS) Lactic acidosis Lebers Hereditary Optic Neuropathy (LHON) Lipoyltransferase 1 Deficiency (LIPT1) Maple Syrup Urine Disease, Type III Maternally Inherited Deafness or Aminoglycoside-Induced Deafness Maternally Inherited Diabetes and Deafness (MIDD) Maternally Inherited Diabetes Mellitus (MIDM) Methylmalonic Acidemia and Hyperhomocysteinemia, cblx Type Methylmalonic Aciduria and Homocystinuria, cblj Type Mitochondrial DNA Depletion Syndrome Mitochondrial DNA Multiple Deletions Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS) Mitochondrial Myopathy (MM) Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA) Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE) Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D) Mitochondrial Trifunctional Protein (MTP) Deficiency Multiple Mitochondrial Dysfunctions Syndrome Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) Nephrotic Syndrome Type 9 (NPHS9) Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP) Optic Atrophy Oxidative Phosphorylation (OXPHOS) Deficiency Pearson Syndrome Perrault Syndrome 4 (PRLTS4) Primary Coenzyme Q10 Deficiency Progressive Familial Intrahepatic Cholestasis Progressive Familial Intrahepatic Cholestasis-2 (PFIC2) Pyridoxine-Refractory Sideroblastic Anemia Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive Pyruvate dehydrogenase complex deficiency Pyruvate Metabolism Sensorineural Hearing Loss (SNHL) 24

25 Medical Specialties for which GENETEST Dx offers tests Neurological Disorders Sideroblastic Anemia Sideroblastic Anemia with Spinocerebellar Ataxia Sideroblastic Anemia, X-linked Spastic Paraplegia 28 (SPG28) Spastic Paraplegia 4 (SPG4) Spastic Paraplegia 43 (SPG43) Spastic Paraplegia 54 (SPG54) Spastic Paraplegia 74 (SPG74) Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) Wilson Disease Wolfram Syndrome Achalasia-Addisonianism-Alacrima Adenylosuccinate Lyase Deficiency Aicardi-Goutieres Syndrome Alexander Disease Allgrove Syndrome Alpers syndrome (Alpers-Huttenlocher syndrome) Alpha-Dystroglycanopathies Alpha-Thalassemia Intellectual Disability Syndrome Amish Lethal Microcephaly Anauxetic Dysplasia Angelman syndrome (AS) Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type) Ataxia Atypical Rett Syndrome Autism Spectrum Disorders Becker Muscular Dystrophy (BMD) Benign Familial Infantile Seizures (BFIS) Benign Familial Neonatal Seizures (BFNS) Benign Familial Neonatal-Infantile Seizures (BFNIS) Biotinidase Deficiency Brown-Vialetto-Van Laere Syndrome Bulbospinal Muscular Atrophy, X-linked Cerebellar Hypoplasia Cerebral Cavernous Malformation (CCM) Charcot Marie Tooth (CMT) CMT with Focal Segmental Glomerulosclerosis COACH Syndrome Coffin-Lowry Syndrome (CLS) Cohen Syndrome Complicated Hereditary Spastic Paraplegias Congenital Insensitivity to Pain (CIP) Congenital Insensitivity to Pain with Anhidrosis Congenital Muscular Dystrophy (CMD) Congenital Myopathies Cornelia de Lange Syndrome Cortical Brain Malformations CRASH Syndrome Creatine Deficiency Syndromes Cutis Laxa, Autosomal Dominant Dihydrolipoamide Dehydrogenase Deficiency Distal Motor Neuropathy Dopa-Responsive Dystonia 25

26 Medical Specialties for which GENETEST Dx offers tests Duchenne Muscular Dystrophy (DMD) Dystrophia Myotonica Dystrophia Myotonica 2 Dystrophinopathies Early-Onset Epileptic Encephalopathy and/or Infantile Spasms Emery-Dreifuss Muscular Dystrophy (EDMD) Epilepsy and Mental Retardation Limited to Females Epilepsy with Variable Learning and Behavioral Disorders Episodic Ataxia Fabry Disease Familial Dysautonomia Familial Transthyretin Amyloidosis FG syndrome Fragile X Syndrome Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Glucose Transporter Type I Deficiency Syndrome Hereditary Inclusion Body Myopathy (HIBM) Hereditary Motor and Sensory Neuropathy (HMSN) Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) Hereditary Sensory and Autonomic Neuropathy (HSAN) Hereditary Sensory and Autonomic Neuropathy I (HSAN I) Hereditary Sensory and Autonomic Neuropathy II (HSAN II) Hereditary Sensory and Autonomic Neuropathy III (HSAN III) Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) Hereditary Sensory and Autonomic Neuropathy V (HSAN V) Hereditary Spastic Paraplegia Holoprosencephaly HSAN with Spastic Paraplegia Hydrocephalus, X-linked Ichthyosis, Spastic quadriplegia, and Mental Retardation Infantile Parkinsonism, Autosomal Recessive Infantile Spasm Syndrome-2, X-linked Inherited Erythromelalgia (IEM) Intellectual Disability Joubert Syndrome KBG Syndrome Kennedy Disease Lafora Disease Limb-Girdle Muscular Dystrophy (LGMD) Lissencephaly Macrocephaly MASA Syndrome Meckel-Gruber Syndrome Menkes Disease Metabolic Myopathy Microcephaly Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ) Mowat-Wilson Syndrome Mucolipidosis IV Myasthenia/Myasthenic Syndromes (Congenital) Myofibrillar Myopathy (MFM) Myotonia Atrophica Myotonia Congenita Myotonic Dystrophy, Type 1 (DM1) 26

27 Medical Specialties for which GENETEST Dx offers tests Myotonic Dystrophy, Type 2 (DM2) Nemaline Myopathy Neurofibromatosis Type 1 Neurofibromatosis Type 2 Neuronal Ceroid Lipofuscinoses (NCL) Niemann-Pick Disease, Type C Niemann-Pick Disease, Types A and B Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant Occipital Horn Disease Oculopharyngeal Muscular Dystrophy (OPMD) Ohtahara Syndrome Oral-Facial Digital Type 6 Ornithine Transcarbamylase (OTC) Deficiency Paroxysmal Extreme Pain Disorder (PEPD) Paroxysmal Kinesigenic Dyskinesia (PKD) Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC or ICCA) Partial Epilepsy with Auditory Features, Autosomal Dominant Periventricular Nodular Heterotopia Pitt Hopkins Syndrome Polymicrogyria Pontocerebellar Hypoplasia (PCH) Prader-Willi syndrome (PWS) Premature Ovarian Failure (FMR1-Associated) Progressive Myoclonic Epilepsy Progressive Neurodevelopmental Syndrome in Males Proximal Myotonic Myopathy (PROMM) Pyridoxine Dependent Seizures Rett syndrome Ricker Syndrome Riley Day Syndrome Rosenberg-Chutorian Syndrome Rubinstein-Taybi Syndrome (RSTS) Schwannomatosis Seckel syndrome Septo-Optic Dysplasia Silver Syndrome Simpson-Golabi-Behmel Syndrome (SGBS) Small Fiber Neuropathy (SFN) Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome (SMS) Sotos Syndrome Spastic Ataxia Spinal and Bulbar Muscular Atrophy (SBMA) Spinal Muscular Atrophy Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) Steinert Disease Supravalvular Aortic Stenosis Tay-Sachs Disease Triple-A Syndrome Tuberous Sclerosis Complex (TSC) Tyrosine Hydroxylase Deficiency Ullrich CMD/Bethlem Myopathy Uncomplicated Hereditary Spastic Paraplegias Unverricht-Lundborg Disease (Baltic Myoclonus) 27

28 Medical Specialties for which GENETEST Dx offers tests Prenatal Diagnosis Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Walker Warburg Syndrome Warburg Micro Syndrome West Syndrome Williams-Beuren syndrome 46,XY Gonadal Dysgenesis (SRY-related) 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related) Achondrogenesis Achondroplasia (ACH) Acro-Renal-Ocular syndrome Androgen Insensitivity Syndrome (AIS) Anophthalmia Hypochondroplasia (HCH) MASA Syndrome Microphthalmia Noonan Syndrome Open Spine/Abdominal Wall Defects Osteogenesis Imperfecta (OI) Prenatal Cornelia de Lange Syndrome (CdLS) Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) Short-Rib Thoracic Dysplasia (SRTD) Smith-Lemli-Opitz Syndrome Thanatophoric Dysplasia (TD) Townes-Brocks Syndrome Uniparental Disomy Velocardiofacial syndrome Antley-Bixler Syndrome (ABS) Campomelic Dysplasia (CD) CHARGE Syndrome Chromosomal Abnormalities CRASH Syndrome Cytochrome P450 Oxidoreductase (POR) Deficiency DiGeorge syndrome Duane-Radial Ray syndrome Ectrodactyly Hay-Wells Syndrome Holoprosencephaly Holt-Oram syndrome Hydrocephalus, X-linked 28 Renal Disorders Alport Syndrome Birt-Hogg-Dube Syndrome Branchiootic Syndrome Branchiootorenal syndrome Dent Disease Dent Disease 2 Familial Isolated Hyperparathyroidism (FIHP) Fumarate Hydratase Deficiency Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hyperparathyroidism-Jaw Tumor Syndrome Oral-Facial-Digital syndrome Type 1

29 Medical Specialties for which GENETEST Dx offers tests Parathyroid Carcinoma Pneumothorax, Primary Spontaneous Renal Cancer Renal-Coloboma Syndrome / Papillorenal Syndrome Chondrodysplasia Punctata (CDPX1) Coffin-Lowry Syndrome (CLS) Duane-Radial Ray syndrome Gorlin Syndrome Hereditary Multiple Exostoses (HME) Rheumatologic Disorders Holt-Oram syndrome Chronic Infantile Neurologic Cutaneous and Articular Syndrome Familial Cold Autoinflammatory Syndrome Familial Cold Urticaria syndrome Familial Hibernian Fever Familial Mediterranean Fever Hyper-IgD Syndrome Majeed Syndrome Muckle-Wells Syndrome Neonatal Onset Multisystem Inflammatory Disease Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome TNF Receptor-Associated Periodic Syndrome Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus Hypochondroplasia (HCH) Hypophosphatemic Rickets, X-linked Metaphyseal Dysplasia without Hypotrichosis Multiple Epiphyseal Dysplasia (MED) Nevoid basal cell carcinoma syndrome Osteogenesis Imperfecta (OI) Osteopetrosis Type 1, Autosomal Dominant Osteoporosis-Pseudoglioma Syndrome Pseudo-Vitamin D-Deficiency Rickets Pseudoachondroplasia (PSACH) Rickets, Hypophosphatemic, Autosomal Dominant Skeletal Disorders Rickets, Hypophosphatemic, Autosomal Recessive Achondrogenesis Achondroplasia (ACH) Acro-Renal-Ocular syndrome Anauxetic Dysplasia Basal cell nevus syndrome Campomelic Dysplasia (CD) Cartilage-Hair Hypoplasia Cherubism 29 Skin Disorders Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) Short-Rib Thoracic Dysplasia (SRTD) Thanatophoric Dysplasia (TD) Townes-Brocks Syndrome Van Buchem Disease Type 2 Acral Peeling Skin Syndrome

30 Medical Specialties for which GENETEST Dx offers tests Arthrogryposis-Renal Dysfunction-Cholestasis Syndrom-1 Autosomal Recessive Congenital Ichthyosis Basal cell nevus syndrome Birt-Hogg-Dube Syndrome Bloom Syndrome Bullous Ichthyosiform Erythroderma Carney Complex CEDNIK Syndrome Chanarin-Dorfman syndrome Clefting Syndrome Clouston Syndrome Collodion Baby Congenital Ichthyosiform Erythroderma, Non-Bullous Congenital Insensitivity to Pain with Anhidrosis Cutis Laxa, Autosomal Dominant Darier Disease Dyskeratosis Congenita Dystrophic Epidermolysis Bullosa (DEB) Ectodermal Dysplasia Ectrodactyly Epidermolysis Bullosa (EB) Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Simplex Epidermolysis Bullosa, Junctional Type Epidermolysis Bullosa, Junctional with Muscular Dystrophy Epidermolysis Bullosa, Junctional with Pyloric Atresia Epidermolytic Ichthyosis Epidermolytic Palmoplantar Keratoderma (EPPK) Erythrokeratodermia Variabilis (EKV) Familial Cutaneous Malignant Melanoma Ferguson-Smith Disease Focal Dermal Hypoplasia Fumarate Hydratase Deficiency Generalized Atrophic Benign Epidermolysis Bullosa (GABEB) Goltz Syndrome Gorlin Syndrome Hailey-Hailey disease Haim-Munk Syndrome Harlequin Ichthyosis Hay-Wells Syndrome Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) Herlitz Junctional Epidermolysis Bullosa Hermansky-Pudlak Syndrome Hidrotic ectodermal dysplasia Hoyeraal-Hreidarsson Syndrome (HHS) Hyper-IgE Syndrome (HIES) Hypo-/Anhidrotic Ectodermal Dysplasia Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) Ichthyosis Prematurity Syndrome Ichthyosis Vulgaris Ichthyosis, Spastic quadriplegia, and Mental Retardation Ichthyosis, X-linked (Steroid Sulfatase Deficiency) Jobs Syndrome Keratitis-Ichthyosis-Deafness syndrome (KID syndrome) Keratosis Follicularis Spinulosa Decalvans (KFSD) 30

31 Medical Specialties for which GENETEST Dx offers tests Vorner syndrome Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma White Sponge Nevus Lamellar Ichthyosis Type 1 Lamellar Ichthyosis Type 2 MEDNIK Syndrome Mitis Junctional Epidermolysis Bullosa Netherton Syndrome Neutral lipid storage disease with ichthyosis (NLSD) Nevoid basal cell carcinoma syndrome NISCH Syndrome Non-epidermolytic Palmoplantar Keratoderma (NEPPK) Non-Herlitz Junctional Epidermolysis Bullosa Odonto-onycho-dermal dysplasia (OODD) Pachyonychia Congenita type 1 (PC1) Pachyonychia Congenita type 2 (PC2) Palmoplantar Keratoderma with SNHL Papillon-Lefevre Syndrome Dx Pneumothorax, Primary Spontaneous Pseudoxanthoma Elasticum (PXE) Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Refsum Disease Schopf-Schulz-Passarge Syndrome (SSPS) Sjogren Larsson Syndrome (SLS) Split Hand - Split Foot Malformation Steatocystoma Multiplex Superficial Epidermolytic Ichthyosis Unna-Thost disease Vohwinkel syndrome 31

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35 CONOCE PREVIENE 52 (55) ext. 35 Rio Bamba No. 927, 2 Piso Col. Lindavista. Del. GAM CP México D.F.