ACHONDROGENESIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Achondrogenesis panel evaluates severe forms of lethal/neonatal skeletal dysplasia characterized by disproportionate dwarfism, thoracic hypoplasia, abnormal mineralization, and delayed ossification, with a high perinatal impact. Next-generation sequencing (NGS) with CNVs allows for diagnostic confirmation, differentiation of subtypes (type 1B, type 2, and overlapping phenotypes), and guidance of reproductive counseling. Genes analyzed: COL2A1, SLC26A2, TRIP11.
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