• 
  Brain Malformations / Neuronal Migration Disorders

• 
  Carrier Screening

• 
  Coagulation / Hematology

• 
  Ear, Nose and Throat
  • Craniofacial Malformations
  • Hearing loss

• 
  Exome Sequencing

• 
  Eye Diseases
  • Albinism / Nystagmus
  • Corneal diseases
  • High myopia and differential diagnoses
  • Lens diseases
  • Macular dystrophy
  • Optic atrophies
  • Primary system disorders
  • Retinal diseases

• 
  Heart Diseases

• 
  Hepatic and Pancreatic Diseases

• 
  Hereditary Cancer Syndromes
  • Colorectal Cancer and Polyposis Syndromes
  • Endocrine Tumors
  • Gastrointestinal Tumors, Other
  • Gynecological Tumors - Breast and Ovarian Cancer
  • Gynecological Tumors - Endometrial Cancer
  • Hereditary Cancer Syndromes
  • Malignant Melanoma
  • Nephrological / Urological Tumors - Renal Cancers
  • Nephrological / Urological Tumors - Prostate Cancer
  • Non-small cell lung cancer
  • Pediatric Cancer Predisposition Syndromes
  • Tumors of the Central Nervous System

• 
  Mental Retardation and Dysmorphology
  • Mental Retardation and Dysmorphology
  • Skeletal Dysplasia

• 
  Metabolic Diseases
  • Congenital Disorders of Glycosylation (CDG)
  • Metabolic Diseases

• 
  Nephrology, Endocrinology, and Electrolytes

• 
  Neurogenetic Disorders
  • Dementia / Neurodegeneration
  • Epilepsy
  • Migraine / Paroxysmal Neurological Disorders
  • Movement Disorders

• 
  Neuromuscular Disorders
  • Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
  • Malignant Hyperthermia
  • Mitochondrial Diseases
  • Muscle Diseases
  • Myotonia
  • Neuromuscular Disorders
  • Neuropathy / Motor Neuron Diseases
  • Periodic Palsy

• 
  Prenatal diagnostics
  • Brain malformations
  • Cardiac defect
  • Eye Diseases
  • Fetal akinesia
  • Fetal cardiac arrhythmias
  • Hydrops Fetalis
  • Neural Tube Defects
  • Renal malformations
  • Skeletal Dysplasia

• 
  Primary Immunodeficiency

• 
  Pulmonary Diseases

• 
  Reproductive Genetics

• 
  Skin and Hair anomalies
  • Connective tissue disorder
  • Hair anomalies
  • Pigmentation changes
  • Skin and skin appendages

• 
  Teeth anomalies
  • Disorders of tooth development
  • Disorders of tooth structure

• 
  Vascular and Connective Tissue Disorders