پانل های بیماری

قلب و عروق (Cardiology)

Aorta Panel

Arrhythmia Panel

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel

Atrial Fibrillation Panel

Brugada Syndrome Panel

Cardiomyopathy Panel

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

Comprehensive Cardiology Panel

Congenital Structural Heart Disease Panel

Dilated Cardiomyopathy (DCM) Panel

Ehlers-Danlos Syndrome Panel

Hereditary Hemorrhagic Telangiectasia (HHT) Panel

Heterotaxy and Situs Inversus Panel

Hyperlipidemia Core Panel

Hyperlipidemia Panel

Hypertrophic Cardiomyopathy (HCM) Panel

Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel

Liddle Syndrome Panel

Long QT Syndrome (LQTS) Panel

Marfan Syndrome Panel

Noonan Syndrome Panel

Pulmonary Artery Hypertension (PAH) Panel

Short QT Syndrome (SQTS) Panel

پوست، مو و ناخن (Dermatology)

Adams-Oliver Syndrome Panel

Albinism Panel

Cutis Laxa Panel

Dyskeratosis Congenita Panel

Ectodermal Dysplasia Panel

Ehlers-Danlos Syndrome Panel

Epidermolysis Bullosa Panel

Hereditary Acrodermatitis Enteropathica Panel

Hereditary Melanoma and Skin Cancer Panel

Hermansky-Pudlak Syndrome Panel

Ichthyosis Panel

Neurofibromatosis Panel

Pachyonychia Congenita Panel

Palmoplantar Keratoderma Panel

Progeria and Progeroid Syndromes Panel

Tuberous Sclerosis Panel

Waardenburg Syndrome Panel

Xeroderma Pigmentosum Panel

گوش، حلق و بینی (Ear, Nose & Throat)

Alport Syndrome Panel

Branchio-Oto-Renal (BOR) Syndrome Panel

Comprehensive Hearing Loss and Deafness Panel

Hereditary Hemorrhagic Telangiectasia (HHT) Panel

Non-Syndromic Hearing Loss Panel

Pendred Syndrome Panel

Resonate Program Panel

Stickler Syndrome Panel

Syndromic Hearing Loss Panel

Usher Syndrome Panel

Waardenburg Syndrome Panel

غدد درون‌ریز و متابولیسم (Endocrinology)

Abnormal Genitalia/ Disorders of Sex Development Panel

Comprehensive Monogenic Diabetes Panel

Congenital Adrenal Hyperplasia Panel

Glucocorticoid Deficiency Panel

Hyperlipidemia Panel

Hyperparathyroidism Panel

Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel

Hypomagnesemia Panel

Hypothyroidism and Resistance to Thyroid Hormone Panel

Kallmann Syndrome Panel

MODY Panel

Monogenic Obesity Panel

Premature Ovarian Failure Panel

گوارش (Gastroenterology)

Cholestasis Panel

Congenital Diarrhea Panel

Congenital Hepatic Fibrosis Panel

Gastrointestinal Atresia Panel

Hirschsprung Disease Panel

Pancreatitis Panel

Polycystic Liver Disease Panel

خون شناسی (Hematology)

Anemia Panel

Bleeding Disorder/Coagulopathy Panel

Bone Marrow Failure Syndrome Panel

Coagulation Factor Deficiency Panel

Comprehensive Hematology and Hereditary Cancer Panel

Comprehensive Hematology Panel

Comprehensive Immune and Cytopenia Panel

Congenital Neutropenia Panel

Diamond-Blackfan Anemia Panel

Dyskeratosis Congenita Panel

Fanconi Anemia Panel

Hemophagocytic Lymphohistiocytosis Panel

Hereditary Leukemia Panel

Hermansky-Pudlak Syndrome Panel

Platelet Function Disorder Panel

Red Blood Cell Membrane Disorder Panel

Thrombocytopenia Panel

نشانگان سرطان (Hereditary Cancer)

Comprehensive Hematology and Hereditary Cancer Panel

Comprehensive Hereditary Cancer Panel

Hereditary Breast and Gynecological Cancer Panel

Hereditary Breast Cancer High Risk Panel

Hereditary Cancer High Risk Panel

Hereditary Colorectal Cancer Panel

Hereditary Endocrine Cancer Panel

Hereditary Gastrointestinal Cancer Panel

Hereditary Leukemia Panel

Hereditary Lung Cancer Panel

Hereditary Melanoma and Skin Cancer Panel

Hereditary Pancreatic Cancer Core Panel

Hereditary Pancreatic Cancer Panel

Hereditary Paraganglioma-Pheochromocytoma Panel

Hereditary Pediatric Cancer Panel

Hereditary Renal Cancer Panel

Neurofibromatosis Panel

Tuberous Sclerosis Panel

Xeroderma Pigmentosum Panel

ایمونولوژی (Immunology)

Autoinflammatory Syndrome Panel

Bone Marrow Failure Syndrome Panel

Chronic Granulomatous Disease Panel

Complement System Disorder Panel

Comprehensive Immune and Cytopenia Panel

Congenital Neutropenia Panel

Dyskeratosis Congenita Panel

Hemophagocytic Lymphohistiocytosis Panel

Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Panel

Primary Immunodeficiency Panel

Severe Combined Immunodeficiency Panel

نقص عضو و معلولیت (Malformations)

M Syndrome / Primordial Dwarfism Panl - 3

Adams-Oliver Syndrome Panel

Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel

Arthrogryposes Panel

Brachydactyly / Syndactyly Panel

Cerebral Cavernous Malformation Panel

Chondrodysplasia Punctata Panel

Cleft Lip/Palate and Associated Syndromes Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Comprehensive Short Stature Syndrome Panel

Comprehensive Skeletal Dysplasias and Disorders Panel

Cornelia de Lange Syndrome Panel

Craniosynostosis Panel

Exostosis and Related Disorders Panel

Facial Dysostosis and Related Disorders Panel

Gastrointestinal Atresia Panel

Heterotaxy and Situs Inversus Panel

Hirschsprung Disease Panel

Holoprosencephaly Panel

Kabuki Syndrome Panel

Limb Malformations Panel

Lissencephaly Panel

Lymphatic Malformations and Related Disorders Panel

Macrocephaly / Overgrowth Syndrome Panel

Meier-Gorlin Syndrome Panel

Metaphyseal Dysplasia Panel

Microcephaly and Pontocerebellar Hypoplasia Panel

Micromelic Dysplasia Panel

Neurofibromatosis Panel

Neuronal Migration Disorder Panel

Osteogenesis Imperfecta Panel

Osteopetrosis and Dense Bone Dysplasia Panel

Polymicrogyria Panel

Seckel Syndrome Panel

Septo-Optic Dysplasia Panel

Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel

Skeletal Dysplasia with Abnormal Mineralization Panel

Skeletal Dysplasias Core Panel

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel

Vascular Malformations Panel

اختلالات متابولیک (Metabolic Disorders)

Aicardi-Goutières Syndrome Panel

Coenzyme q10 Deficiency Panel

Comprehensive Metabolism Panel

Congenital and Familial Lipodystrophy Panel

Congenital Disorders of Glycosylation Panel

Congenital Mono- and Disaccharide Disorders Panel

Creatine Metabolism Deficiency Panel

Cystinuria Panel

Fatty Acid Oxidation Syndrome Panel

Glycogen Storage Disorder Panel

Hereditary Hemochromatosis Panel

Homocystinuria Core Panel

Hyperammonemia and Urea Cycle Disorder Panel

Hyperphenylalaninemia Panel

Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel

Hypomagnesemia Panel

Lysosomal Disorders and Mucopolysaccharidosis Panel

Metabolic Liver Failure Panel

Metabolic Myopathy and Rhabdomyolysis Panel

Mitochondrial DNA Depletion Syndrome Panel

Monogenic Obesity Panel

Nephrolithiasis Panel

Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel

Periodic Paralysis Panel

Peroxisomal Disorders Panel

Porphyria Panel

Purine and Pyrimidine Metabolism Disorders Panel

Tyrosinemia Panel

اختلالات آنزیم‌ها (Mitochondrial Disorders)

Mitochondrial DNA Depletion Syndrome Panel

Mitochondrial Genome Test

کلیه (Nephrology)

Alport Syndrome Panel

Bardet-Biedl Syndrome Panel

Bartter Syndrome Panel

Branchio-Oto-Renal (BOR) Syndrome Panel

Ciliopathy Panel

Cystic Kidney Disease Panel

Diabetes Insipidus Panel

Hemolytic Uremic Syndrome Panel

Hypomagnesemia Panel

Hypophosphatemic Rickets Panel

Joubert Syndrome Panel

Liddle Syndrome Panel

Meckel Syndrome Panel

Monogenic Obesity Panel

Nephrolithiasis Panel

Nephronophthisis Panel

Nephrotic Syndrome Panel

Polycystic Kidney Disease Panel

Primary Ciliary Dyskinesia Panel

Primary Hyperoxaluria Panel

Pseudohypoaldosteronism Panel

Renal Malformation Panel

Renal Tubular Acidosis Panel

Senior-Loken Syndrome Panel

عصب شناسی (Neurology)

Amyotrophic Lateral Sclerosis Panel

Ataxia Panel

Autism Spectrum Disorders Panel

Beyond Paediatric Epilepsy Panel – for Europe and Middle East

Cerebral Cavernous Malformation Panel

Charcot-Marie-Tooth Neuropathy Panel

Coenzyme q10 Deficiency Panel

Collagen Type VI-Related Disorders Panel

Comprehensive Epilepsy Panel

Comprehensive Muscular Dystrophy / Myopathy Panel

Congenital Myasthenic Syndromes Panel

Creatine Metabolism Deficiency Panel

Dementia Panel

Dystonia Panel

Emery-Dreifuss Muscular Dystrophy Panel

Epileptic Encephalopathy Panel

Holoprosencephaly Panel

Idiopathic Generalized and Focal Epilepsy Panel

Leukodystrophy and Leukoencephalopathy Panel

LGMD and Congenital Muscular Dystrophy Panel

Lissencephaly Panel

Macrocephaly / Overgrowth Syndrome Panel

Metabolic Epilepsy Panel

Metabolic Myopathy and Rhabdomyolysis Panel

Microcephaly and Pontocerebellar Hypoplasia Panel

Migraine Panel

NCL and Progressive Myoclonic Epilepsy Panel

Nemaline Myopathy Panel

Neuro-Ophthalmology Panel

Neuronal Migration Disorder Panel

Parkinson Disease Panel

Periodic Paralysis Panel

Polymicrogyria Panel

Porphyria Panel

Septo-Optic Dysplasia Panel

Spastic Paraplegia Panel

Spinal Muscular Atrophy Panel

Tuberous Sclerosis Panel

X-linked Intellectual Disability Panel

چشم (Ophthalmology)

Achromatopsia Panel

Albinism Panel

Bardet-Biedl Syndrome Panel

Cataract Panel

Cone Rod Dystrophy Panel

Congenital Stationary Night Blindness Panel

Corneal Dystrophy Panel

Ectopia Lentis Panel

Flecked Retina Disorders Panel

Glaucoma Panel

Joubert Syndrome Panel

Leber Congenital Amaurosis Panel

Macular Dystrophy Panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel

My Retina Tracker Program Panel

Neuro-Ophthalmology Panel

Optic Atrophy Panel

Retinal Dystrophy Panel

Retinitis Pigmentosa Panel

Senior-Loken Syndrome Panel

Septo-Optic Dysplasia Panel

Stickler Syndrome Panel

Usher Syndrome Panel

Vitreoretinopathy Panel

ریه (Pulmonology)

Bronchiectasis Panel

Central Hypoventilation and Apnea Panel

Comprehensive Pulmonology Panel

Cystic Lung Disease Panel

Hermansky-Pudlak Syndrome Panel

Interstitial Lung Disease Panel

Neonatal Respiratory Distress – Surfactant Dysfunction Panel

Primary Ciliary Dyskinesia Panel

Pulmonary Artery Hypertension (PAH) Panel

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