IDH1 Mutation Analysis
Methodology
Molecular
Test Description and clinical significance
Genes
IDH1 common variants (eg, R132H, R132C)
Disease:
Cytogenetically normal acute myeloid leukemia, Primary myelofibrosis, myelodysplastic neoplasm, Cholangiocarcinoma, gliomas and chondrosarcomas, Maffucci syndrome, and Ollier disease
Molecular test that utilizes NGS technology to detect mutations in IDH1gene. IDH1 R132H is present in 1.45% of AACR GENIE cases, with oligodendroglioma, anaplastic astrocytoma, astrocytoma, anaplastic oligodendroglioma, and conventional glioblastoma multiforme having the greatest prevalence.
Specimen Requirements
Collection:
FFPE sections, 5-10 sections are recommended at 4 to 10 micron. A minimum of 20 ?l of each DNA with a concentration of at least 5ng/?l and an OD260/280 ratio of 1.7-1.9 and 2.0-2.1 respectively, obtained on a spectrophotometer is required.
Stability:
FFPE blocks- Indefinitely/ FFPE Slides-4 weeks
Unacceptable Conditions:
Specimen submitted is in the incorrect fixative. Insufficient specimen (less than 10% of tumor). Unlabeled or improperly labeled specimens. Decalcified specimens. Improperly stored DNA or RNA.
Storage & Transport
Store FFPE blocks and slides at room temperature. Genomic DNA must be stored at 2–8°C for several weeks post extraction, then at –15 to –25°C for long term storage
CPT(s)
81120
New York Approved
NO
TAT
10 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
