MEIER-GORLIN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Meier-Gorlin Syndrome panel studies the genetic alterations responsible for this rare disease characterized by primordial dwarfism, microtia, and absent or hypoplastic patellae. It is caused by mutations in genes involved in cell cycle control and DNA replication, affecting cell growth and proliferation from embryonic stages. Identification using next-generation sequencing (NGS) allows for confirmation of the clinical diagnosis, differentiation from other forms of dwarfism, and appropriate genetic counseling for affected families. Genes analyzed: ORC1, ORC4, ORC6, CDT1, CDC6, MCM5. You can consult the complete list of analyzed genes by contacting Genotica.
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