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.
- CONNECTIVE TISSUE DISORDERS (Connect2, 47 genes)
- AUTISM SPECTRUM DISORDERS (with or without Intellectual Disability or Epilepsy, 53 genes)
- NOONAN SYNDROME (PTPN11, SOS1, SOS2, KRAS, NRAS, BRAF, SHOC2, CBL, RIT1, RAF1, LZTR1)
- NEUROFIBROMATOSIS (NF1) and LEGIUS SYNDROME (SPRED1)
- TUBEROUS SCLEROSIS (TSC1, TSC2)
- KABUKI SYNDROME (KMT2D/MLL2, KDM6A)
- PANCREATITIS (CFTR, SPINK1, CTRC, PRSS1)
- WAARDENBURG SYNDROME (PAX3, MITF, SOX10, EDN2, EDNRB)
- CARDIOFACIOCUTANEOUS SYNDROME (MAP2K1, MAP2K2)
- PENDRED SYNDROME (SLC26A4)
- COSTELLO SYNDROME (HRAS, KRAS, BRAF)
- CYSTIC FIBROSIS (CF40 mutation screen, CF100 mutation screen, or full sequence)
- EXPANDED ASHKENAZI JEWISH CARRIER SCREENING PANEL:
- Mucolipidosis (MCOLN1)
- Maple Syrup Urine Disease (BCKDHB)
- Glycogen Storage Disease 1A (G6PC)
- Bloom Syndrome (BLM)
- Fanconi Anemia type C (FANCC)
- Familial Dysautonomia (IKBKAP)
- Gaucher Disease (GBA)
- Niemann Pick Type A (SMPD1)
- Factor XI (F11)
- Canavan Disease (ASPA)
- Tay Sachs Disease (HEXA)
- Walker-Warburg Syndrome (FKTN)
- Nemaline Myopathy (NEB)
- Usher Syndrome Type 1F (PCDH15)
- Usher Syndrome Type 3A (CLRN1)
- Lipoamide Dehydrogenase Deficiency (DLD)
- Joubert Disease (TMEM216)
- Familial Hyperinsulinemia (ABCC8)