The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Joubert and Meckel-Gruber syndrome.
Joubert syndrome is characterized by hypotonia, oculomotor apraxia, nystagmus, and intellectual disability. In these patients, brain MRI reveals the pathognomonic “molar tooth sign” (MTS) with absent or hypoplastic cerebellar vermis, deepened interpenduncular fossa, and elongated superior cerebellar peduncles. 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 genes implicated in Joubert and Meckel-Gruber syndrome all play roles in the formation or function of sensory cilia. Primary cilia are essential for vertebrate development, and mutations affecting this organelle underlie a large group of human malformation syndromes, the ciliopathies.
We are offering several new panels for Joubert and Meckel-Gruber syndrome:
Our Joubert/Meckel-Gruber Syndrome Sequencing Panel includes sequencing of the 18 genes listed: AHI1, ARL13B, C5orf42, CC2D2A, CEP41, CEP290, INPP5E, KIF7, OFD1, MSK1, NPHP1, RPGRIP1L, TCTN1, TMEM67, TMEM128, TMEM216, TMEM237, TTC21B
Our Joubert/Meckel-Gruber Panel includes sequencing of the 18 genes listed above and in addition, deletion/duplication analysis of 12 genes: AHI1, ARL13B, CC2D2A, CEP290, INPP5E, KIF7, OFD1, MSK1, NPHP1, RPGRIP1L, TMEM67, TMEM216
Our Meckel-Gruber Syndrome Sequencing Panel includes sequencing of the 6 genes listed: CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM67, TMEM216. We also have a Meckel-Gruber Syndrome Deletion/Duplication panel which includes deletion/duplication analysis of the above 6 genes.
Comprehensive sequence coverage of the coding regions and splice junctions of all genes in these panels will be performed. Targets of interests will be amplified using highly parallelized and multiplexed PCR reactions assembled with the Raindance System. DNA will be sequenced using Illumina technology. Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors. All novel and/or potentially pathogenic variants will be confirmed by Sanger sequencing. The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and small insertions and deletions.