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    Parilike silmahaigustega seotud mutatsioonide analüüs

    Published 01/06/2015

    Parilike silmahaigustega seotud mutatsioonide analüüs

    Asper Cardiogenetics Asper DermatologyAsper DysmorphologyAsper EndocrinologyAsper HematologyAsper ImmunogeneticsAsper Metabolic DisordersAsper NephrologyAsper NeurogeneticsAsper Oncogenetics Asper Ophthalmics Asper Otogenetics Asper Pharmacogenetics Asper Reprogenetics

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      • Asper Cardiogenetics submission form
      • Asper Dermatology submission form
      • Asper Dysmorphology submission form
      • Asper Endocrinology submission form
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      • Asper Metabolic Disorders submission
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      • Asper Neurogenetics submission form
      • Asper Oncogenetics submission form
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      • Whole Genome Sequencing submission form
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    • Adjusted gene panels for you
    • Asper Biogene Data Renewal Form
    • Asper Dermatology
      • Cutis Laxa NGS panel
        • List of diseases covered by Cutis Laxa NGS panel
      • Ehlers-Danlos Syndrome NGS panel
        • List of diseases covered by Ehlers-Danlos Syndrome NGS panel
      • Epidermolysis Bullosa NGS panel
        • List of diseases covered by Epidermolysis Bullosa NGS panel
      • Hermansky-Pudlak Syndrome NGS panel
        • List of diseases covered by Hermansky-Pudlak Syndrome NGS panel
      • Hypotrichosis NGS panel
        • List of diseases covered by Hypotrichosis NGS panel
      • Ichthyosis NGS panel
        • List of diseases covered by Ichthyosis NGS panel
      • Melanoma 
        • List of diseases covered by Melanoma NGS panel
      • Neurofibromatosis NGS panel
        • List of diseases covered by Neurofibromatosis NGS panel
      • Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
        • List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel
      • Palmoplantar Keratoderma NGS panel
        • List of diseases covered by Palmoplantar Keratoderma NGS panel
      • Waardenburg Syndrome
        • List of diseases covered by Waardenburg Syndrome NGS panel
      • Whole Exome Sequencing
    • Asper Dysmorphology
      • Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
        • List of diseases covered by Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel
      • Brain malformations NGS panel
        • List of diseases covered by Brain malformations NGS panel
      • Cornelia de Lange Syndrome NGS panel
        • List of diseases covered by Cornelia de Lange Syndrome NGS panel
        • List of non-coding variants covered by Cornelia de Lange Syndrome NGS panel
      • Craniosynostosis NGS panel
        • List of diseases covered by Craniosynostosis NGS panel
      • Ehlers-Danlos Syndrome
        • List of diseases covered by Ehlers-Danlos Syndrome NGS panel
      • Frazer Syndrome NGS panel
        • List of diseases covered by Frazer Syndrome NGS panel
      • Joubert Syndrome NGS panel
        • List of diseases covered by Joubert Syndrome NGS panel
      • Microcephaly NGS panel
        • List of diseases covered by Microcephaly NGS panel
        • List of non-coding variants covered by Microcephaly NGS panel
      • Noonan Spectrum Disorders/Rasopathies NGS panel
        • List of diseases covered by Noonan Spectrum Disorders/Rasopathies NGS panel
      • Osteogenesis Imperfecta NGS panel
        • List of diseases covered by Osteogenesis Imperfecta NGS panel
      • Skeletal Ciliopathies NGS panel
        • List of diseases covered by Skeletal Ciliopathies NGS panel
      • Skeletal Dysplasia NGS panel
        • List of diseases covered by Skeletal Dysplasia NGS panel
      • Smith-Lemli-Opitz Syndrome
      • Whole Exome Sequencing
    • Asper Endocrinology
      • Androgen Insensitivity Syndrome
      • Congenital Adrenal Hyperplasia
      • Hyperinsulinism NGS panel
        • List of diseases covered by Hyperinsulinism NGS panel
      • Kallmann Syndrome NGS panel
        • List of diseases covered by Kallmann Syndrome NGS panel
      • Multiple endocrine neoplasia syndrome
      • Combined Pituitary Hormone Deficiency
        • List of diseases covered by Combined Pituitary Hormone Deficiency NGS panel
      • Familial Hypocalciuric Hypercalcemia
      • Hypothyroidism and Thyroid Hormone Resistance NGS panel
        • List of diseases covered by Hypothyroidism and Thyroid Hormone Resistance NGS panel
      • Maturity Onset Diabetes of the Young (MODY) NGS panel
        • List of diseases covered by Maturity Onset Diabetes of the Young (MODY) NGS panel
      • Thyroid Dyshormonogenesis NGS panel
        • List of diseases covered by Thyroid Dyshormonogenesis NGS panel
      • Whole Exome Sequencing
    • Asper Hematology
      • Alpha Thalassemia
      • Beta Thalassemia
      • Coagulation Disorders NGS panel
        • List of diseases covered by Coagulation Disorders NGS panel
      • Fanconi Anemia
      • Hereditary Sideroblastic Anemia NGS panel
        • List of diseases covered by Hereditary Sideroblastic Anemia NGS panel
      • List of diseases covered by Fanconi Anemia NGS panel
      • Neutropenia NGS panel
        • List of diseases covered by Neutropenia NGS panel
      • Severe Combined Immunodeficiency NGS panel
        • List of diseases covered by Severe Combined Immunodeficiency NGS panel
      • Thrombocytopenia NGS panel
        • List of diseases covered by Thrombocytopenia NGS panel
      • Whole Exome sequencing
    • Asper Immunogenetics
      • Antibody deficiency (a- and hypogammaglobulinemia)
      • Autoimmunity and lymphoproliferation
      • Chronic granulomatous disease
      • Combined immunodeficiency
      • Familial mutation testing
      • Genetic susceptibility to fungal infections/candidosis
      • Genetic susceptibility to mycobacterial diseases
      • Genetic susceptibility to viral infections (including herpes)
      • Hereditary angioedema
      • Hereditary autoinflammatory syndrome
      • Hyper IgE syndrome
      • Primary ciliary dyskinesia
      • Whole Exome Sequencing
    • Asper Immunogenetics submission form
    • Asper Metabolic Disorders
      • Celiac Disease
      • Citrullinemia, type 1 & type 2
      • Congenital Disorders of Glycolysation NGS panel
        • List of diseases covered by Congenital Disorders of Glycolysation NGS panel
      • Fatty Acid Oxidation Disorder NGS panel
        • List of diseases covered by Fatty Acid Oxidation Disorder NGS panel
      • Galactosemia
      • Gilbert syndrome
      • Glutaric Aciduria, type 1 & type 2
      • Glycogen Storage Disease NGS panel
        • List of diseases covered by Glycogen Storage Disease NGS panel
      • Hemochromatosis NGS panel
        • List of diseases covered by Hemochromatosis NGS panel
      • Lactose intolerance
      • Lysosomal Storage Disease NGS panel
        • List of diseases covered by Lysosomal Storage Disease NGS panel
      • Metabolic Myopathy and Rhabdomyolysis
        • List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel
      • Methylmalonic Aciduria and Homocystinuria NGS panel
        • List of diseases covered by Methylmalonic Aciduria and Homocystinuria NGS panel
      • Mitochondrial Diseases
        • List of diseases covered by nuclear genes NGS panel
      • Mucopolysaccharidosis NGS panel
        • List of diseases covered by Mucopolysaccharidosis NGS panel
      • Porphyria NGS panel
        • List of diseases covered by Porphyria NGS panel
      • Smith Lemli Opitz Syndrome
      • Urea Cycle Disorder NGS panel
        • List of diseases covered by Urea Cycle Disorder NGS panel
      • Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
      • Whole Exome Sequencing
      • Citrin Deficiency
    • Asper Nephrology
      • Bardet-Biedl Syndrome NGS panel
        • List of diseases covered by Bardet-Biedl Syndrome NGS panel
      • Bartter Syndrome NGS panel
        • List of diseases covered by Bartter Syndrome NGS panel
      • Branchiootorenal Syndrome NGS panel
      • Ciliopathy NGS panel
        • List of diseases covered by Ciliopathy NGS panel
      • Hemolytic Uremic Syndrome NGS panel
        • List of diseases covered by Hemolytic Uremic Syndrome NGS panel
      • Hypomagnesemia NGS panel
        • List of diseases covered by Hypomagnesemia NGS panel
      • Nephronophthisis NGS panel
        • List of diseases covered by Nephronophthisis NGS panel
      • Nephrotic Syndrome NGS panel
        • List of diseases covered by Nephrotic Syndrome NGS panel
      • Polycystic Kidney Disease NGS panel
        • List of diseases covered by Polycystic Kidney Disease NGS panel
      • Primary Ciliary Dyskinesia NGS panel
        • List of diseases covered by Primary Ciliary Dyskinesia NGS panel
      • Senior-Loken Syndrome NGS panel
        • List of diseases covered by Senior-Loken Syndrome NGS panel
      • Whole Exome Sequencing
    • Asper Pharmacogenetics
      • Aminoglycoside-Induced Deafness
      • Antidepressants PGx
      • Contraceptives + HRT PGx
      • Malignant Hyperthermia NGS panel
      • Statin-Induced Myopathy targeted mutation analysis
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    • Asper Cardiogenetics
      • Apolipoprotein C-II Deficiency
      • Arrhythmia
        • List of diseases covered by Arrhythmia NGS panel
      • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel
        • List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel
      • Brugada Syndrome NGS panel
        • List of diseases covered by Brugada Syndrome NGS panel
      • Catecholaminergic Polymorphic Ventricular Tachycardia
        • List of diseases covered by Catecholaminergic Polymorphic Ventricular Tachycardia NGS panel
      • Dilated Cardiomyopathy NGS panel
        • List of diseases covered by Dilated Cardiomyopathy NGS panel
      • Ehlers-Danlos Syndrome NGS panel
        • List of diseases covered by Ehlers-Danlos Syndrome NGS panel
      • Familial Hypercholesterolemia NGS panel
      • Familial Lipoprotein Lipase Deficiency
      • Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes NGS panel
        • List of diseases covered by Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes NGS panel
      • Hereditary Hemorrhagic Telangiectasia NGS panel
        • List of diseases covered by Hereditary Hemorrhagic Telangiectasia NGS panel
      • Hyperlipoproteinemia, type 3
      • Hyperlipoproteinemia, type 5
      • Hypertriglyceridemia NGS panel
      • Hypertrophic Cardiomyopathy NGS panel
        • List of diseases covered by Hypertrophic Cardiomyopathy NGS panel
      • Lecithin Cholesterol Acyltransferase Deficiency
      • Left Ventricular Noncompaction Cardiomyopathy NGS panel
        • List of diseases covered by Left Ventricular Noncompaction Cardiomyopathy NGS panel
      • Long QT Syndrome NGS panel
        • List of diseases covered by Long QT Syndrome NGS panel
      • Mitochondrial Diseases
        • List of diseases covered by the panel
      • Noonan Spectrum Disorders/Rasopathies NGS panel
        • List of diseases covered by Noonan Spectrum Disorders/Rasopathies NGS panel
      • Pulmonary Arterial Hypertension NGS panel
        • List of diseases covered by Pulmonary Arterial Hypertension NGS panel
      • Requirements for Noonan syndrome Prenatal testing
      • Short QT Syndrome NGS panel
        • List of diseases covered by Short QT Syndrome NGS panel
      • Statin-Induced Myopathy
      • Tangier Disease
      • Thrombophilia
      • Whole Exome Sequencing
    • Asper Neurogenetics
      • Amyotrophic Lateral Sclerosis NGS panel
        • List of diseases covered by Amyotrophic Lateral Sclerosis NGS panel
      • Autism Spectrum Disorders NGS panel
        • List of diseases covered by Autism Spectrum Disorders NGS panel
        • List of non-coding variants covered by Autism Spectrum Disorders NGS panel
      • Brunner Syndrome
      • Charcot-Marie-Tooth Disease
        • List of diseases covered by Charcot-Marie-Tooth Disease NGS panel
        • List of non-coding variants covered by Charcot-Marie-Tooth NGS panel
      • Congenital Muscular Dystrophy NGS panel
        • List of diseases covered by Congenital Muscular Dystrophy NGS panel
        • List of non-coding variants covered by Congenital Muscular Dystrophy NGS panel
      • Congenital Myasthenic Syndrome NGS panel
        • List of diseases covered by Congenital Myasthenic Syndrome NGS panel
      • Congenital Myopathy and Distal Myopathy NGS panel
        • List of diseases covered by Congenital Myopathy and Distal Myopathy NGS panel
      • Dystonia NGS panel
        • List of diseases covered by Dystonia NGS panel
        • List of non-coding variants covered by Dystonia NGS panel
      • Epilepsy NGS panel
        • List of diseases covered by Epilepsy NGS panel
        • List of non-coding variants covered by Epilepsy NGS panel
      • Familial Hemiplegic Migraine NGS panel
        • List of diseases covered by Familial Hemiplegic Migraine NGS panel
      • Fragile X Syndrome
      • Frontotemporal Dementia NGS panel
        • List of diseases covered by Frontotemporal Dementia NGS panel
        • List of non-coding variants covered by Frontotemporal Dementia NGS panel
      • Hereditary Ataxia
        • List of diseases covered by Hereditary Ataxia NGS panel
        • List of non-coding variants covered by Hereditary Ataxia NGS panel
      • Hereditary Spastic Paraplegia NGS panel
        • List of diseases covered by Hereditary Spastic Paraplegia NGS panel
        • List of non-coding variants covered by Hereditary Spastic Paraplegia NGS panel
      • Leukodystrophy and Leukoencephalopathy NGS panel
        • List of diseases covered by Leukodystrophy and Leukoencephalopathy NGS panel
      • Limb-Girdle Muscular Dystrophy NGS panel
        • List of diseases covered by Limb-Girdle Muscular Dystrophy NGS panel
        • List of non-coding variants covered by Limb-Girdle Muscular Dystrophy NGS panel
      • Malignant hyperthermia NGS panel
      • Menkes Disease
      • Metabolic Myopathy and Rhabdomyolysis
        • List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel
      • Mitochondrial Diseases
        • List of diseases covered by nuclear genes NGS panel
      • Myotonia Congenita
        • List of diseases covered by Myotonia Congenita NGS panel
      • Myotonic dystrophy, type I
      • Myotonic dystrophy, type II
      • Neurodegeneration with Brain Iron Accumulation NGS panel
        • List of diseases covered by Neurodegeneration with Brain Iron Accumulation NGS panel
      • Neurofibromatosis NGS panel
        • List of diseases covered by Neurofibromatosis NGS panel
      • Oculopharyngeal Muscular Dystrophy
      • Parkinson Disease NGS panel
        • List of diseases covered by Parkinson Disease NGS panel
      • Paroxysmal Dyskinesia NGS panel
        • List of diseases covered by Paroxysmal Dyskinesia NGS panel
      • Requirements for Prenatal testing
      • Smith-Lemli-Opitz Syndrome
      • Spinocerebellar ataxia type 12
      • Tuberous Sclerosis NGS panel
        • List of non-coding variants covered by Tuberous Sclerosis NGS panel
      • Unverricht-Lundborg disease
      • Whole Exome Sequencing
      • Wilson Disease
    • Asper Oncogenetics
      • BRAF gene mutation analysis
        • BRAF gene targeted mutation analysis
      • Breast and Ovarian Cancer
        • List of diseases covered by Breast and Ovarian Cancer NGS panel
      • Cancer Predisposition
        • List of diseases covered by Cancer Predisposition NGS panel
      • Familial Adenomatous Polyposis
      • Fanconi Anemia
        • List of diseases covered by Fanconi Anemia NGS panel
      • Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer – HNPCC
      • Melanoma NGS panel
        • List of diseases covered by Melanoma NGS panel
      • Microsatellite instability testing
        • Microsatellite instability read more
      • MUTYH-associated polyposis genetic testing
      • Neurofibromatosis NGS panel
        • List of diseases covered by Neurofibromatosis NGS panel
      • Nijmegen Breakage Syndrome
      • Ovarian Cancer
        • List of diseases covered by Ovarian Cancer NGS panel
      • Polyposis Syndromes
        • List of diseases covered by Polyposis Syndromes NGS panel
      • Prostate Cancer NGS panel
        • List of diseases covered by Prostate Cancer NGS panel
      • Renal Cancer NGS panel
        • List of diseases covered by Renal Cancer NGS panel
      • Thyroid Cancer NGS panel
        • List of diseases covered by Thyroid Cancer NGS panel
      • Tuberous Sclerosis NGS panel
        • List of non-coding variants covered by Tuberous Sclerosis NGS panel
      • Von Hippel-Lindau Disease
      • Whole Exome Sequencing
      • Whole Exome Sequencing
    • Asper Ophthalmics
      • Achromatopsia NGS panel
        • List of diseases covered by Achromatopsia NGS panel
      • Age-Related Macular Degeneration – AMD
        • List of diseases covered by AMD NGS panel
      • Aniridia
      • Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis NGS panel
        • List of diseases covered by Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
      • Cataract NGS panel
        • List of diseases covered by Cataract NGS panel
      • Choroideremia
      • Congenital Fibrosis of Extraocular Muscles NGS panel
      • Ectopia Lentis NGS panel
        • List of diseases covered by Ectopia Lentis NGS panel
      • Eye Diseases NGS panel of 294 genes
        • List of diseases covered by the NGS panel of 294 genes
      • Glaucoma
        • List of diseases covered by Glaucoma NGS panel
      • Norrie Disease
      • Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
        • List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel
      • Papillorenal Syndrome
      • Requirements for Prenatal testing
      • Retinoblastoma
      • Senior-Loken Syndrome
        • List of diseases covered by Senior-Loken Syndrome NGS panel
      • Vitreoretinopathy NGS panel
        • List of diseases covered by Vitreoretinopathy NGS panel
      • Whole Exome Sequencing
      • X-Linked Retinoschisis
      • Optic Atrophy
      • Autosomal Dominant Retinitis Pigmentosa
        • List of diseases covered by Autosomal Dominant Retinitis Pigmentosa NGS panel
      • Autosomal Recessive Retinitis Pigmentosa
        • List of diseases covered by Autosomal Recessive Retinitis Pigmentosa NGS panel
      • Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
        • List of diseases covered by Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel
      • Cone-Rod Dystrophy
        • List of diseases covered by Cone-Rod Dystrophy NGS panel
      • Congenital Stationary Night Blindness
        • List of diseases covered by Congenital Stationary Night Blindness NGS panel
      • Corneal Dystrophy
        • List of diseases covered by Corneal Dystrophy NGS panel
      • Leber Congenital Amaurosis
        • List of diseases covered by Leber Congenital Amaurosis NGS panel
      • Leber Hereditary Optic Neuropathy
      • Stargardt Disease
      • Usher Syndrome
        • List of diseases covered by Usher Syndrome NGS panel
      • Vitelliform Macular Dystrophy
      • X-Linked Retinitis Pigmentosa
    • Asper Otogenetics
      • Alport Syndrome NGS panel
      • Aminoglycoside-Induced Deafness
      • Branchiootorenal Syndrome NGS panel
      • Jervell and Lange-Nielson Syndrome
      • Mitochondrial Diseases
        • List of diseases covered by nuclear genes NGS panel
      • Pendred Syndrome
      • Proovimaterjal sünnieelseks testimiseks
      • Requirements for Prenatal testing
      • Sensorineural Hearing loss NGS panel
        • List of diseases covered by Sensorineural Hearing loss NGS panel
      • Stickler Syndrome NGS panel
        • List of diseases covered by Stickler Syndrome NGS panel
      • Treacher Collins Syndrome NGS panel
      • Usher Syndrome NGS panel
        • List of diseases covered by Usher Syndrome NGS panel
      • Waardenburg Syndrome NGS panel
        • List of diseases covered by Waardenburg Syndrome NGS panel
      • Whole Exome Sequencing
      • Zellweger Spectrum Disorders NGS panel
        • List of diseases covered by Zellweger Spectrum Disorders NGS panel
    • Asper Reprogenetics
      • Ashkenazi Jewish diseases
        • List of diseases covered by Ashkenazi Jewish diseases NGS panel
      • Cystic Fibrosis
        • Cystic Fibrosis read more
      • Female Infertility NGS panel
        • List of diseases covered by Female Infertility NGS panel
      • Folate-Dependent Neural Tube Defects
      • Fragile X Syndrome
      • Male Factor Infertility
        • List of diseases covered by Male Factor Infertility NGS panel
        • Male Factor Infertility read more
      • Maternal Cell Contamination
      • Primary Ciliary Dyskinesia NGS panel
        • List of diseases covered by Primary Ciliary Dyskinesia NGS panel
      • Requirements for Prenatal testing
      • Requirements for SLOS Prenatal testing
      • Whole Exome Sequencing
      • Carrier Testing NGS panel
    • List of diseases covered by Cornelia de Lange Syndrome NGS panel
    • List of non-coding variants covered by Cornelia de Lange Syndrome NGS panel
    • List of diseases covered by Craniosynostosis NGS panel
    • List of diseases covered by Microcephaly NGS panel
    • List of non-coding variants covered by Microcephaly NGS panel
    • List of non-coding variants covered by Tuberous Sclerosis NGS panel

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    Asper Biogene
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