ORION Focus

Cardiology

• Aortic Aneursyms and Aortopathy
• Arrhythmogenic Right Ventricular Cardiomyopathy
• Brugada Syndrome
• Cardiomyopathy
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Dilated cardiomyopathy
• Familial Hypercholesterolemia
• Familial Hyperlipidemia
• Familial Myocardial Infarction
• Hypertrophic Cardiomyopathy
• Idiopathic Ventricular Fibrillation
• Inherited Arrhythmias
• Left Ventricular Noncompaction
• Loey Dietz
• Long QT Syndrome
• Marfan Syndrome (FBN1 gene)
• Pompe Disease (GAA gene)
• Rasopathy
• Short QT Syndrome

Dermatology

• Cockayne Syndrome
• Connective Tissue and Related Disorders
• Cutis Laxa
• Dyskeratosis Congenita
• Ectodermal Dysplasia
• Epidermolysis Bullosa and Related Blistering Disorders
• Epidermolysis Bullosa
• Griscelli Syndrome
• Ichthyosis
• Menkes
• Noonan Syndrome
• Oculocutaneous Albinism (Including Hermansky-Pudlak Syndrome)
• Palmoplantar Kerotoderma
• Progeria and Lipodystrophy
• Progeroid Syndrome
• Pseudoxanthoma elasticum
• Tuberous Sclerosis
• Waardenburg Syndrome
• Xeroderma Pigmentosum

Endocrinology

• Adrenal Hypoplasia Congenita (NR0B1)
• Beckwith-Wiedemann Syndrome
• Bardet-Biedl Syndrome
• CAH/ Congenital Adrenal Hyplerplasia- 21 Hydroxylase Deficiency
• Combined Pitutary Hormone Deficiency
• Congenital Hypopituitarism
• Congenital Hypothyroidism
• Disorders of Sex Development/ Ambiguous Genitalia
• Familial Glucocorticoid Deficiency
• Familial Hypocalcemia
• Familial Hypocalciuric Hypercalcemai
• Familial Hypercholesterolemia
• Familial Hyperlipidemia
• Female Infertility
• Hypoglycemia
• Hypogonadotropic Hypogonadism (Including Kallamann Syndrome)
• Hypophosphaetemic Rickets
• Isolated Growth Hormone Deficiency
• Male Infertility
• MODY (Maturity Onset Diabeties of the Young)
• Monogenic Obesity
• Mutiple Endocrine Neoplasia (MEN1, MEN 2A, MEN 2B, FMTC)
• Neonatal Hyperinsulinemia/ Congenital Hyperinsulinemia
• Noonan Syndrome
• Obesity (non syndromic)
• Obesity (Syndromic)
• Overgrowth Syndromes
• Parathyroid Disorders
• Phaeochromocytoma
• Premature Ovarian Failure
• Primordial Dwarfism
• Pseudohypoaldosteronism
• Pseudohypoparathyroidism/ Pseudopseudohypoparathyroidism (GNAS)
• Short Stature
• Skeletal Dysplasia
• Syndromic Short Stature
• Thyroid Disorders
• Von Hippel-Lindau Syndrome (VHL)

ENT

• Syndromic Deafness
• Waardenburg Syndrome
• Non-Syndromic Deafness
• Usher Syndrome

Gastrology & Hepatobiliary

• Crigler-Najjar Syndrome (UGT1A1)
• Ciliopathies
• Cystic Fibrosis (CFTR)
• Diarrhea Congenital, Chronic
• Gilbert Syndrome
• Galactosemia
• Glycogen Storage Disease
• Haemochromatosis (HFE)
• Hepatic Porphyria
• Hirschsprung Disease
• Herediatry Pancreatitis
• HNPCC (Colorectal Cancer)
• Neonatal Hyperbilirubinemia
• Lysosomal Storage Disorders
• Metabolic Liver Disease
• Mitochondrial Liver Disease
• Polycystic Liver Disease
• Progressive Familial Intrahepatic Cholestasis
• Cholestasis and Bile Acid Synthesis Defect
• Primary Hyperoxluria (Type I & II)
• Wilson’s Disease (ATP7B)

Haematology

• ADAMTS13
• Bleeding Disorders
• Bone Marrow Failure Syndromes
• Common Variable Immunodeficiency
• Congenital Dyserythropoietic Anemia
• Congenital Neutropenia
• Diamond Blackfan Anemia
• Dyskeratosis Congenita
• Erythrocytosis
• Fanconi Anemia
• Glanzmann Thrombasthenia
• Hemochromatosis
• Hemolytic Anemia
• Hereditary Red Cell Membrane Disorders
• Herediatry Spherocystosis
• Megaloblastic Anemia with or without Hemocystinuria
• Platelet Disorders
• Thalassemia
• Thrombocytopenia
• Thrombotic Thrombocytopenic Purpura (ADAMTS13)
• Thrombophilia
• Von Willebrand Disease
• Wiskott Aldrich Syndrome (WAS)

Immune System

• Autoimmunity with or without Lymphoproliferation
• Bone Marrow Failure
• Chronic Granulomatous Disease
• Combined Immunodeficiencies
• Congenital Neutropenia
• Cystic Fibrosis (CFTR)
• DNA Repair Defects
• Dyskeratosis Congenits
• Neurofibromatosis
• Neurocutaneous Syndrome
• Haemophagocytic Lymphohistiocytosis Syndromes
• Hyper Ig E Syndromes
• Immunodeficiency with Congenital Thrombocytopenia
• Mendelian Susceptibility to Mycobacterial Infections
• Periodic Fever Syndrome
• Primary Antibody Deficiency
• Susceptibility to EBV and Lymphoproliferatve Conditions
• Severe Combined Immunodeficiency
• X-linked/Autosomal Lymphoproliferative Syndrome

Metabolic

• Alkaptonuria (HGD)
• Alpha-1 Antitrypsin Deficiency (SERPINA1)
• Biotinidase Deficiency (BTD)
• Citrullinemia
• Creatine Deficiency
• Fabry Disease (GLA)
• Fanconi Bickel Syndrome
• Farber Lipogranulomatosis (ASAH1)
• Fatty Acid Oxidation Disorders
• Fucosidosis (FUCA1)
• Galactosemia
• Gaucher Disease (GBA)
• GLUT1 Deficiency (SLC2A1)
• Glycine Encephalopathy
• Glycogen Storage Disorder
• Glycosylation (CDG) Disorders
• GM1 Gangliosidosis/Mucopolysaccharidosis type IVB Gene Analysis
• Hereditary Fructose Intolerance (ALDOB)
• Homocystinuria
• Hyperargininemia (ARG1)
• Leigh Syndrome & Mitochondrial Encephalopathy
• Lesch Nyhan Syndrome (HPRT1)
• Lysosomal Acid Lipase Deficiency (LIPA)
• Maple Syrup Urine Disease
• McArdle Disease (PYGM)
• Menkes Disease (ATP7A)
• Methylmalonic Aciduria
• Mitochondrial Disorders
• Mucopolysaccharidosis
• Neurotransmitter Disorders – Pterin Defects
• Niemann-Pick Aisease
• Organic Acidemia
• Peroxisomal Disorder
• Phenylketonuria (PAH)
• Pompe Disease (GAA)
• Porphyria
• Purine and Pyrimidine Defects
• Urea Cycle Defects

Nephrology

• Alport Syndrome
• Atypical HUH
• Bartter Syndrome
• CAKUT
• Ciliopathy
• Cystinosis (CTNS)
• Dent Disease
• Diabetes Insipidus
• Fanconi Bickel Syndrome
• Focal Segmental Glomerulosclerosis
• Hemolytic Uremic Syndrome
• Liddle Syndrome (AD) (Pseudoprimary Hyperaldosteronism)
• Lowe Syndrome (OCRL)
• Meckel-Gruber Syndrome
• Nephrolithiasis
• Nephrotic Syndrome
• Polycystic Kidney Disorder
• Primary Hyperoxaluria
• Primary Cilliary Dyskinesia
• Renal Tubular Acidosis
• Renal tubular Dysgenesis
• Renal Hypouricemia

Neurology

Neuromuscular

• Arthrogryposis
• Charcot-Marie-Tooth Disease (CMT)/ Hereditary Motor and Sensory Neuropathy (HMSN)
• Congenital Muscular Dystrophy
• Congenital Myopathy
• Duchenne Muscular Dystrophy (DMD)
• Hereditary Spastic Paraplegia
• Limb Girdle Muscular Dystrophy/ LGMD/ Muscular Dystrophy
• Metabolic Myopathy
• Myotonia Congenita
• Spinal Muscular Atrophy (Does not include SMN1/SMN2 Deletion/Duplication Analysis)

Epilepsy

• Aicardi-Goutieres Syndrome
• Dravet Syndrome (SCN1A)
• Infantile Epileptic Encephalopathy
• Epilepsy / Seizures
• Familial Hemiplegic Migraine
• Febrile Seizures
• Progressive Myoclonic Epilepsy / Myoclonic Epilepsy (includes NCL)

Movement Disorders

• Ataxia-telangiectasia (ATM)
• Ataxia
• Alternating Hemiplegia
• Dystonia
• Early-onset Juvenile Parkinsonism
• Hyperekplexia
• Movement Disorders
• Neurodegenration with Brain Iron Accumulation (NBIA)
• Neurotransmitter Disorders
• Periodic Paralysis, Hyperkalemic, Hypokalemic, Thyrotoxic and Andersen-Tawii Syndrome

Neurocutaneous Disorders

• Neurofibromatosis (NF1 Gene Analysis)
• Neurocutaneous Syndrome
• Neurofibromatosis (NF1 and NF2) Gene Analysis
• TSC1 & TSC2 Gene Analysis

Neurodegenerative Disorders

• Adrenoleukodystrophy (ABCD1)
• Alexander Disease (GFAP)
• Alzheimer’s Disease
• Amyotropic Lateral Sclerosis
• Basal Ganglia Calcification
• Canavan Disease (ASPA)
• Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 (NOTCH3) (CADASIL)
• Cystic Megalencephaly (MLC1)
• Dementia
• Frontotemporal Dementia
• Giant Axonal Neuropathy-1 (GAN)
• Joubert Syndrome
• Krabbe Disease (GALC)
• Leukodystrophy
• Metachromatic Leukodystrophy
• Neuronal Ceroid Lipofuscinosis
• Pantothenate Kinase-Associated Neurodegeneration (PANK2)
• Tay-Sachs Disease (HEXA)

CNS malformations and Neuronal Migration Disorders

• Agenesis of Corpus Callsoum
• Aqueductal Stenosis – X Linked (MASA Syndrome)- (L1CAM)
• Ciliopathies Including Meckel Gruber and Joubert
• Craniosynostosis Syndromes
• Holoprosencephaly
• Lissencephaly
• Macrocephaly
• Microcephaly
• Neuronal Migration Syndromes
• Pontocerebellar Hypoplasia
• Primary Microcephaly

Intellectual Disability and Autism

• Autism Spectrum Disorder
• Fragile X Syndrome
• Intellectual Disability/Mental Retardation
• Rett Syndrome (MECP2)
• Rett Syndrome Panel
• X Linked Intellectual Disability

Skeletal Dysplasia

• Achondroplasia (FGFR3)
• Chondrodysplasia Punctata
• Cleidocranial Dysplasia
• Craniosynostosis
• Exotoses
• Fetal Akinesia
• Fibrous Dysplasia/McCune-Albright Syndrome
• Hypophosphatemic Rickets
• Inherited Skeletal Dysplasia
• Lysosomal Storage Disorders
• Metaphyseal Dysplasia
• Multiple Epiphyseal Dysplasia
• Multiple Exostoses
• Osteogenesis Imperfecta
• Osteopetrosis
• Polydactyly
• Primordial Dwarfism
• Short Rib Polydactyly Syndrome (DYNC2H1)

Oncology

• Acute Myeloid Leukemia
• BRCA 1/2 Gene Testing
• Breast Cancer
• Chromosomal Breakage Syndrome
• Colon Cancer
• Colorectal Cancer
• Endometrial Cancer
• Familial Adenomatosis Polyposis Coli
• Gastric Cancer
• Neuroblastoma
• Ovarian Cancer
• Pancreatic Cancer
• Predictive Hereditary Cancer Panel
• Prostate Cancer
• Renal Cancer
• Retinoblastoma
• Schwannomatosis
• Thyroid Cancer
• Tuberous Sclerosis
• Uterine Cancer
• Wilms Tumor

Ophthalmology

• Achromatopsia
• Aniridia
• Anophthalmia/Microphthalmia – Non Syndromic
• Anophthalmia/Microphthalmia – Syndromic
• Anterior Segment Dysgenesis
• Cone Rod Dystrophies
• Congenital Fibrosis of the Extraocular Muscles
• Congenital Stationary Night Blindness
• Corneal Dystrophies
• Glaucoma
• Isolated Cataract
• Leber Congenital Amaurosis
• Leber Hereditary Optic Neuropathy (LHON) – Nuclear Encoded Genes
• Myopia
• Optic Atrophy
• Retinal Dystrophies
• Retinits Pigmentosa
• Stargardt Disease
• Usher Syndrome
• Xeroderma Pigmentosum

Pulmonology

• Central Hypoventilation and Apnea
• Cystic Fibrosis (CFTR)
• Familial Pulmonary Fibrosis
• Interstitial Lung Diseases
• Kartageners Syndrome
• Primary Ciliary Dyskinesia
• Pulmonary Arterial Hypertension
• Surfactant Deficiency
• Surfactant Metabolism Dysfunction