Joubert and Meckel-Gruber syndromes Panel

This product is only meant for customers who already purchased a Dante Genome Test

Joubert and Meckel-Gruber Syndromes panel is used to identify genetic variants associated with Joubert syndrome and related disorders (JSRD) and Meckel-Gruber syndrome (MKS), rare genetic disorders that affect the development of the brain and other organs. This panel tests for genetic variants in genes that are important for the formation and function of a structure in the brainstem called the cerebellar vermis.
This panel is designed for individuals with a family history of JSRD or MKS or for those who have symptoms of the conditions, such as developmental delay, breathing problems, eye movement abnormalities, kidney cysts, and liver problems. Early diagnosis through genetic testing can help inform treatment and management decisions, including supportive care and monitoring for complications. It can also inform family planning decisions and provide reassurance for unaffected family members.

The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.

  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • More than 35 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Joubert and Meckel-Gruber Syndromes

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