Sohn Precision Medicine Program at Columbia University
Sohn Foundation Testing in the Laboratory for Personalized Genomic Medicine is available as below. For more information regarding this testing, email sohnpgmorders@columbia.edu.
Cancer Whole Exome Sequencing with Transcriptome
Purpose
Detects actionable constitutional changes predisposing to cancer; detects cancer specific missense, indel and copy number changes as well as chimeric RNAs and RNAs with altered expression levels using combination of exome and transcriptome sequencing.
Sohn-PIPseq Initiative Brochure
CPT Codes
81415, 81416, 81479
Methodology
Next Generation Sequencing of mRNA and DNA
Turnaround Time
60 Days – Turnaround times < 60 days are available for rush cases based on clinical context and prior discussion with the laboratory.
Specimen
- DNA and RNA obtained from frozen tumor tissue (please document tumor content on requisition; at least 40% tumor required) and extracted in a CLIA laboratory.
- 30 blanks from FFPE with at least 3 H&E slides, containing > 40% tumor.
- Fresh or frozen bone marrow containing at least 40% tumor sent on ice packs via overnight delivery.
- Please also include a normal control sample (e.g., blood or buccal swab).
Note: The lab cannot accept FFPE blocks or frozen tissue blocks.
Associated Documents
Cancer Genes (Cosmic):
Coverage Disclaimer:
- WES regions not guaranteed greater than 10 fold
- COSMIC gene exons not guaranteed greater than 30 fold
- Recurrent COSMIC mutations not guaranteed to be covered greater than 30 fold