Next Generation Sequencing (NGS)

Metabolic disorders and endocrine diseases

Exom and Trio Analysis

Heterozygosity screening

Prenatal Gene Panel Analysis (also postnatal)
NGS Agenesis of the Corpus callosum
NGS Brain malformations
NGS Ciliopathies
NGS Fetal akinesia
NGS Fetal heart arrhythmias
NGS Heart malformations
NGS Heterotaxy
NGS Intrauterine growth restriction (IUGR)
NGS Kidney diseases
NGS Limb malformations
NGS Lymphedema
NGS Microcephaly
NGS Rasopathies
NGS Sex reversal
NGS Skeletal dysplasias
NGS VACTERL association

Postnatal Gene-Panel Analysis
NGS Adipositas
NGS Amelogenesis imperfecta
NGS Anemia
NGS Autism-spectrum-disorders
NGS Cardiomyopathies
NGS Cholestasis
NGS Connective tissue disease
NGS Deafness
NGS Epilepsies
NGS Eye disorders
NGS Floppy infant syndroms
NGS Hereditary spastic paraplegia (HSPs)
NGS Hypercholesterolemia
NGS Hyper IgE syndrome
NGS Hypophosphatemia and hypophosphatemic rickets
NGS Hypopituitarism
NGS Hypothyroidism
NGS Immunodeficiency (CVID)
NGS Intelectual disability
NGS Leukodystrophies
NGS Nephrotic syndrome
NGS Neuromuscular disorders
NGS Pancreatitis
NGS Parkinson
NGS Periodic fever syndromes
NGS Short stature
NGS SMMCI syndrome
NGS Stroke (early onset)
NGS Thrombocytosis
NGS X-chromosomal mental retardation

Hereditary Tumors
Breast- and ovarian cancer (BRCA-Diagnostic)
Hereditary non-polyposis colorectal carcinoma (HNPCC-Diagnostic)
NGS Hereditary paraganglioma/phäochromozytoma
Gastrointestinal and other tumors
NGS Tumor panel (94 genes)

NGS Custom gene panel