Next Generation Sequencing (NGS)

Next Generation Sequencing (NGS) allows for the simultaneous analyses of genes known to be causally associated with certain disorders (i.e. connective tissue, autism spectrum, etc.).  This high-throughput method, using the Ion Torrent Semiconductor Sequencing Technology (Life Technologies), is cost-effective and quicker than Sanger sequencing.  Turnaround time is 3-4 weeks.

All discovered pathogenic variants will be confirmed by Sanger sequencing at no additional cost. Uniform coverage exceeds 30X, with supplemental Sanger sequencing improving overall coverage to >99% of targeted regions for Connect2 and approximately 95% for autism spectrum disorders analyses.

MLPA assays are also available for those genes that have known deletions reported as pathogenic variants.

UPDATED NGS TEST LIST AT CHG:

Click on disease/disorder name for descriptions and CPT codes.

  1. CONNECTIVE TISSUE DISORDERS (Connect2, 47 genes)
  2. AUTISM SPECTRUM DISORDERS (with or without Intellectual Disability or Epilepsy, 53 genes)
  3. NOONAN SYNDROME (PTPN11, SOS1, SOS2, KRAS, NRAS, BRAF, SHOC2, CBL, RIT1, RAF1, LZTR1)
  4. NEUROFIBROMATOSIS (NF1) and LEGIUS SYNDROME (SPRED1)
  5. TUBEROUS SCLEROSIS (TSC1, TSC2)
  6. KABUKI SYNDROME (KMT2D/MLL2, KDM6A)
  7. PANCREATITIS (CFTR, SPINK1, CTRC, PRSS1)
  8. WAARDENBURG SYNDROME (PAX3, MITF, SOX10, EDN2, EDNRB)
  9. CARDIOFACIOCUTANEOUS SYNDROME (MAP2K1, MAP2K2)
  10. PENDRED SYNDROME (SLC26A4)
  11. COSTELLO SYNDROME (HRAS, KRAS, BRAF)
  12. CYSTIC FIBROSIS (CF40 mutation screen, CF100 mutation screen, or full sequence)
  13. EXPANDED ASHKENAZI JEWISH CARRIER SCREENING PANEL: