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 UPDATED
Joubert Syndrome
Leukodystrophy and Leukoencephalopathy
Limb-Girdle Muscular Dystrophy UPDATED
Malignant Hyperthermia UPDATED
Menkes Disease
Microcephaly UPDATED
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 Pharmacogenetics

Aminoglycoside-Induced Deafness
Antidepressants PGx
Contraceptives + HRT PGx
Malignant Hyperthermia
Statin-Induced Myopathy

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