Neurology Test Updates

Expanded Microcephaly Panel 

  • A comprehensive, dynamic list of 800+ genes (updated regularly)
  • Includes recently identified and emerging genetic causes of microcephaly
  • Proband and parents are sequenced and analyzed concurrently (trio), allowing for more accurate variant interpretation
  • Facilitates identification and interpretation of pathogenic variants based on inheritance, especially de novo variants
  • Turnaround time of 6 weeks

Neurofibromatosis Testing 

  • NF1 Panel
    • Sequencing and deletion/duplication analysis of NF1 & SPRED1
    • Turnaround time of 4 weeks
    • Due to possible clinical overlap with Noonan syndrome, reflex to the Noonan and RASopathies panel is available
  • NF2 Panel
    • Sequencing and deletion/duplication analysis of NF2 & SMARCB1
    • Turnaround time of 4 weeks
    • Pathogenic variants in SMARCB1 are also associated with rhabdoid tumor predisposition syndrome (RTPS1) and Coffin-Siris syndrome (CSS3), which are heterogeneous disorders. Comprehensive genetic testing for these disorders is available as a custom XomeDxSlice test
  • Comprehensive NF Panel
    • Sequencing and deletion/duplication analysis of NF1, SPRED1, NF2SMARCB1
    • Turnaround time of 4 weeks
    • If an individual is suspected to have either NF1/Legius syndrome or NF2/Schwannomatosis, the respective sub-panels are recommended

Other Updates

  • Turnaround time for Epidermolysis Bullosa (EB) XomeDxSlice and Congenital Ichthyosis XomeDxSlice tests decreased to 6 weeks.
  • Any test for infants less than 1 month of age will be rushed