Next Gene Sequencing

Next-generation sequencing allows the analysis of up to several million single DNA molecules in one sequencing run by "massive multiple parallel sequencing". Sequencing of single DNA molecules takes place either on PCR products (so-called amplicon libraries) or on specifically prepared DNA fragments (so-called enrichment libraries). On average, approx. 4-6 sequence variants (Small Nucleotide Variants (SNVs)) are detected per analyzed gene, the relevance of which must be assessed by the reporting scientist for the interpretation of findings. Access to public, commercial and inhouse databases and knowledgeable alert variant analysis classification and filtration are therefore crucial for high quality reporting. We offer NGS sequencing solutions from whole exome analysis through large and small panel analyses down to single gene and single nucleotide analysis. If analyses can be targeted or are technically not accessible by NGS technology we do as well offer genetic analyses including array CGH, sanger sequencing, CNV analysis based on MLPA Assays and Repeat analyses. 

      Disease types include

ü  Brain Malformations

ü  Cardiovascular Diseases

ü  Ciliopathies

ü  Connective Tissue Diseases

ü  Developmental and Growth Disorders

ü  Ear, Nose and Throat Diseases

ü  Endocrine Disorders

ü  Epilepsy and Migraine

ü  Eye Diseases

ü  Gastroenterological Diseases

ü  Hematologic Diseases

ü  Immunological Diseases

ü  Kidney Diseases

ü  Lipometabolic Disorders

ü  Metabolic Diseases

ü  Microcephaly and Macrocephaly

ü  Mitochondrial Diseases

ü  Multisystemic Malformation Syndromes

ü  Muscular Diseases

ü  Neurodegenerative Diseases

ü  Pulmonary and Respiratory Diseases

ü  Reproductive Disorders

ü  Skeletal and Bone Diseases

ü  Skin and Dental Diseases

ü  Tumor Syndromes