Genetic Testing
Genetic Testing is available in the Laboratory for Personalized Genomic Medicine. Click on the links below for a description of tests offered. For more information, email pgminquiry@cumc.columbia.edu.
| TEST CODE | TEST NAME |
| CMA-SOMA | SNP Oligonucleotide Microarray Analysis (SOMA) |
| MGP-CF | Cystic Fibrosis Carrier Screening |
| MGP-CONF | Sanger Sequencing of Individual Variants |
| MGP-FP | Thrombophilia Risk Panel |
| NG-MITOSEQ | mtDNA Whole Genome Sequencing |
| NG-SB | Southern Blot for Mitochondrial DNA Rearrangements |
| NG-MTD | Mitochondrial DNA Depletion |
| NG-HDT | Huntington Disease (HTT) |
| NG-C9 | C9orf72 GGGGCC Repeat Expansion |
| MGP-FMR1 | Fragile X (FMR1) CGG Repeat Expansion |
| MGP-SMA | Spinal Muscular Atrophy - SMN Copy Number |