Test Name:
IDH2 Mutation Analysis
CPT Code:
81121
Turn Around Time:
3 – 7 days
Clinical Application:
Detection of mutations within exon 4 of the IDH2 (isocitrate dehydrogenase 2) gene, including codon R140 and R172. Presence of mutations may indicate treatment with IDH inhibitors.
Diagnosis.
Methodology:
Sanger sequencing. LoD: 10-20%
For sensitive monitoring purposes deep sequencing (NGS) is required.
Rush testing is available on request.
Specimen Requirements:
DNA-based assays
Peripheral Blood: Minimum 2 mL in EDTA (purple top) preferred or 2 mL in sodium heparin (green top)
Bone Marrow: Minimum 1 mL in EDTA (purple top) preferred or 1 mL in sodium heparin (green top)
Paraffin Sections: Minimum of 5 sections at 3 microns each
Note: FFPE bone marrow biopsies can result in inadequate DNA due to decalcification (clots sections preferable).
FFPE for Dermatology-related specimens are not accepted.
FFPE is not an acceptable sample for NGS-based assays.
Storage and Transportation:
Please store and ship specimens at ambient temperatures.
Please refer to our full specimen requirements at Hematologics/Specimen Requirements for additional information and for directions on the storage and shipping of extracted DNA or RNA.