NGS-Diagnostics
Information about NGS-analyses
NGS-panels are the configuration of clinically relevant genes for a specific clinical picture, which are analysed in parallel within the molecular genetic diagnostic by Next-Generation-Sequencing NGS. In exome analysis, all of the approximately 20,000 human genes are examined in parallel and in trio-exome analysis the parental samples are also included in the examination.
If many genes can be responsible for the development of a disease, NGS panel analysis significantly increases the probability of clarifying the cause of the disease.
We offer NGS-panels for the following disease groups:
- Imprinting syndrome and related disorders
- Neurogenics/neuromuscular diseases
- Hereditary kidney diseases
- Syndromic Ciliopathy
Depending on the clinical problem/question singular gene – and panel-analyses can complement one another. We are happy to advise you in individual cases.
In the case of genetic diseases without a concrete indication of the causative genetic defect, a broad-based analysis in the sense of an exome or trio-exome analysis can be a diagnostically useful step. We would also be happy to advise you on the possibilities of these analyses.
You can reach us over the phone on/at +49 241 80-80178 and -80427 or via email at humangenetikukaachende.
