MEIER-GORLIN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 6 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Meier-Gorlin syndrome is a rare genetic growth disorder characterized by the clinical triad of primordial dwarfism, microtia, and patellar aplasia or hypoplasia, although pre- and postnatal growth retardation, microcephaly, and distinctive facial features may also be present. It is caused by mutations in genes involved in the initiation of DNA replication, which are part of the origin recognition complex (ORC) and replication license-associated proteins. The panel allows for confirmation of the molecular diagnosis, differentiation from other primordial dwarfism syndromes, and guidance of clinical and genetic management of the family.
Genes analyzed: CDC6, CDT1, MCM5, ORC1, ORC4, ORC6.
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