ORION Focus

(Gene Panel Testing)

Cardiology

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

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

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

ENT

  • Syndromic Deafness
  • Waardenburg Syndrome
  • Non-Syndromic Deafness
  • Usher Syndrome
Gastrology & Hepatobiliary

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

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

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

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

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

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

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

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

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

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

I Am Interested To Know More Details

Accreditations

CLIA No. 34D2205781