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