Meckel Gruber syndrome Meckel Gruber syndrome (MKS) is the most common syndromic form of neural tube defect and the classic triad of clinical features is characterized by occipital encephalocele, cystic kidneys and fibrotic changes to the liver. The clinical phenotype has since been broadened to include features such as postaxial polydactyly, skeletal dysplasia, microphthalmia, genital anomalies, cleft lip and palate, and heart defects.
Our Meckel-Gruber Syndrome Sequencing Panel includes sequence analysis of the following 11 genes: B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM67, TMEM216, TMEM231.
Deletion/duplication analysis is also available for the majority of the genes on the above panel, please see our information sheet for more details.
Any gene in the Meckel-Gruber Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.