NIMSeq®, a solution for the sequencing of multiple genes in a single panel, for the detection of point mutations associated with defined pathologies.
When is it indicated?
NIMGenetics recommends the application of NIMSeq for the study of syndromes with a characteristic clinical presentation and with a limited number of associated genes.
NIMSeq® Noonan prenatal
Genetic analysis for the study of Noonan syndrome and other rasopathies in the fetal sample. Based on NGS (Next Generation Sequencing), the system guarantees the complete coverage of the 14 genes previously associated with this syndrome.
If a variant is identified in the prenatal sample, NIMGenetics performs the segregation studies necessary to determine the inheritance pattern, confirming or excluding its association with the phenotype.
Delivery of results: 30 working days from receipt of the sample.
NIMGenetics makes specialist Sanger sequencing available for genetic studies in three different scenarios:
- Peripheral blood postnatal study for the partial to total sequencing of the gene requested by the specialist.
- Prenatal study in amniotic fluid or chorionic villus biopsy for the analysis of a variant reported in one of the parents and confirmed at NIMGenetics.
- Segregation studies necessary to determine the inheritance pattern of a variant identified in the patient. The results obtained will allow the exclusion or confirmation of its association with the phenotype.