Asper Cardiogenetics Apolipoprotein C-II Deficiency Arrhythmia Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Brugada Syndrome Catecholaminergic Polymorphic Ventricular Tachycardia Dilated Cardiomyopathy Ehlers-Danlos Syndrome Familial Hypercholesterolemia Familial Lipoprotein Lipase Deficiency Familial Thoracic Aortic Aneurysms and Dissections and Related Syndromes UPDATED Hereditary Hemorrhagic Telangiectasia Hyperlipoproteinemia, type 3 Hyperlipoproteinemia, type 5 Hypertriglyceridemia Hypertrophic Cardiomyopathy Lecithin Cholesterol Acyltransferase Deficiency Left Ventricular Noncompaction Cardiomyopathy NEW Long QT Syndrome Noonan Spectrum Disorders/Rasopathies UPDATED Pulmonary Arterial Hypertension Short QT Syndrome Statin-Induced Myopathy Tangier Disease Thrombophilia Whole Exome Sequencing Asper Dermatology Cutis Laxa UPDATED Ehlers-Danlos Syndrome UPDATED Epidermolysis Bullosa UPDATED Hermansky-Pudlak Syndrome UPDATED Hypotrichosis UPDATED Ichthyosis UPDATED Melanoma UPDATED Neurofibromatosis UPDATED Oculocutaneous Albinism UPDATED Palmoplantar Keratoderma Tuberous sclerosis UPDATED Waardenburg Syndrome UPDATED Whole Exome Sequencing Asper Dysmorphology Brain malformations UPDATED Cornelia de Lange Syndrome UPDATED Craniosynostosis UPDATED Frazer Syndrome UPDATED Microcephaly UPDATED Noonan Spectrum Disorders/Rasopathies UPDATED Osteogenesis Imperfecta UPDATED Skeletal Ciliopathies Skeletal Dysplasia UPDATED Smith-Lemli-Opitz Syndrome Whole Exome Sequencing Asper Endocrinology Androgen Insensitivity Syndrome Combined Pituitary Hormone Deficiency Congenital Adrenal Hyperplasia NEW Familial Hypocalciuric Hypercalcemia Hypothyroidism and Thyroid Hormone Resistance Kallmann Syndrome Maturity Onset Diabetes of the Young (MODY) Thyroid Dyshormonogenesis Whole Exome Sequencing Asper Hematology Alpha Thalassemia Beta Thalassemia Coagulation Disorders Fanconi Anemia Hereditary Sideroblastic Anemia Thrombocytopenia Whole Exome Sequencing Asper Metabolic Disorders Citrin Deficiency Citrullinemia, type 1 Congenital Disorders of Glycolysation Fatty Acid Oxidation Disorder Glutaric Aciduria, type 1 Glutaric Aciduria, type 2 Glycogen Storage Disease Hemochromatosis Lysosomal Storage Disease Metabolic Myopathy and Rhabdomyolysis Methylmalonic Aciduria and Homocystinuria Mucopolysaccharidosis NEW Porphyria Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Smith Lemli Opitz Syndrome Urea Cycle Disorder Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Whole Exome Sequencing Asper Nephrology Bardet Biedl Syndrome Bartter Syndrome Branchiootorenal Syndrome Ciliopathy Hemolytic Uremic Syndrome Hypomagnesemia NEW Nephronophthisis Nephrotic Syndrome Polycystic Kidney Disease Primary Ciliary Dyskinesia Senior-Loken Syndrome Whole Exome Sequencing Asper Neurogenetics Amyotrophic Lateral Sclerosis Autism Spectrum Disorders UPDATED Brunner Syndrome Charcot-Marie-Tooth Disease UPDATED Congenital Muscular Dystrophy NEW Congenital Myasthenic Syndrome Congenital Myopathy and Distal Myopathy Cornelia de Lange Syndrome UPDATED Craniosynostosis Dystonia UPDATED Epilepsy UPDATED Familial Hemiplegic Migraine NEW Fragile X Syndrome Frontotemporal Dementia Hereditary Ataxia UPDATED Hereditary Spastic Paraplegia Joubert Syndrome Leukodystrophy and Leukoencephalopathy Limb-Girdle Muscular Dystrophy UPDATED Malignant Hyperthermia NEW Menkes Disease Microcephaly Mitochondrial Diseases UPDATED Neurodegeneration with Brain Iron Accumulation Parkinson’s Disease Paroxysmal Dyskinesia NEW Smith-Lemli-Opitz Syndrome Tuberous Sclerosis Wilson Disease Whole Exome Sequencing Asper Oncogenetics Breast and Ovarian Cancer Cancer Predisposition Familial Adenomatous Polyposis Fanconi Anemia Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer Melanoma UPDATED Microsatellite instability MUTYH-associated polyposis Nijmegen Breakage Syndrome Polyposis Syndromes Prostate Cancer Thyroid Cancer Von Hippel-Lindau Disease Whole Exome Sequencing Asper Ophthalmics Achromatopsia Age-Related Macular Degeneration Aniridia Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Autosomal Dominant Retinitis Pigmentosa Autosomal Recessive Retinitis Pigmentosa UPDATED Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy Cataract Choroideremia Cone-Rod Dystrophy Congenital Fibrosis of Extraocular Muscles NEW Congenital Stationary Night Blindness Corneal Dystrophy Ectopia Lentis Eye Diseases NGS panel of 294 genes UPDATED Glaucoma Leber Congenital Amaurosis Leber Hereditary Optic Neuropathy Norrie Disease Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome UPDATED Optic Atrophy Papillorenal Syndrome Retinoblastoma Senior-Loken Syndrome Stargardt Disease Usher Syndrome Vitelliform Macular Dystrophy Vitreoretinopathy X-Linked Retinitis Pigmentosa (RPGR ORF15 included) X-Linked Retinoschisis Whole Exome Sequencing Asper Otogenetics Alport Syndrome Aminoglycoside-Induced Deafness Branchiootorenal Syndrome Jervell and Lange-Nielson Syndrome Pendred Syndrome Sensorineural Hearing Loss Stickler Syndrome Treacher Collins Syndrome Usher Syndrome Waardenburg Syndrome Zellweger Spectrum Disorders Whole Exome Sequencing Asper Reprogenetics Ashkenazi Jewish Diseases Carriership Testing Cystic Fibrosis Female Infertility UPDATED Folate-Dependent Neural Tube Defects Fragile X Syndrome Male Factor Infertility UPDATED Maternal Cell Contamination Primary Ciliary Dyskinesia Whole Exome Sequencing
