MECKEL/MECKEL-GRUBER/MECKEL-GRUBER-LIKE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 20 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Meckel-Gruber Syndrome and Related Conditions panel analyzes the genetic causes of a group of severe congenital ciliopathies characterized by multiple malformations, including occipital encephalocele, postaxial polydactyly, cystic renal dysplasia, and liver abnormalities. Identifying mutations in genes involved in the structure and function of the primary cilium allows for molecular diagnosis, confirmation of autosomal recessive inheritance, and precise genetic counseling, which is especially relevant in the prenatal context. Genes analyzed: MKS1, TMEM67, CEP290, CC2D2A, AHI1, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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