IDH1 Mutation Detection – Identification of codon 132 mutations in IDH1 gene
IDH2 Mutation Detection – Identification of codon 140 and 172 mutations in IDH2 gene
Performing Laboratory / Facility
UCLA Molecular Diagnostics Laboratories (MDL)
Performing Section
Molecular Pathology
Availability
Monday through Friday, 0700-1700
Turnaround Time
2-5 business days from receipt of specimen in performing lab
Methodology
IDH1 and IDH2 Idylla Assay is a real- time PCR assay using a cartridge -based design for the detection of somatic mutations in IDH1 and IDH2 genes. The test detects mutations of R132C/H/G/S/L in codon 132 of the IDH1 gene. The test also detects mutations R140Q/L/G/W and R172K/M/G/S/W in codon 172 of the IDH2 gene.
Use
The mutations in IDH1 or IDH2 are prevalent in various types of cancer, including but not limited to glioma, periosteal chondroma, chondrosarcoma, acute myeloid leukemia (AML) and cholangiocarcinoma. Targeted therapies are approved by the U.S. Food and Drug Administration (FDA) and/or recommended by National Comprehensive Cancer Network (NCCN) for the treatment of different malignancies with IDH1 or IDH2 mutations under certain circumstances, including AML, myelodysplastic syndromes, astrocytoma, oligodendroglioma, and chondrosarcoma.
Limitations
IDH1 and IDH2 Mutation Test can detect ≥5% of a mutant allele. IDH1 and IDH2 mutations other than those listed above will not be detected. This assay cannot differentiate among mutations at the same codon. Preparation of DNA from whole blood and bone marrow samples is dependent on the quality of the specimen provided. A negative (no mutation detected) result does not preclude the presence of such a mutation since results depend on, among other factors, mutant allele frequency, specimen integrity, absence of inhibitors and/or interfering polymorphisms, and availability of sufficient DNA for detection.
Specimen Type
Whole blood
Bone marrow
Extracted DNA
Container
Lavender/EDTA
Volume
Whole blood – 4 mL
Bone marrow – 4 mL
Extracted DNA – 200ng
Minimum Volume
Whole blood – <1 mL, if sufficient DNA is extracted from the blood
Bone marrow – <1 mL, if sufficient DNA is extracted from the bone marrow
Extracted DNA – 100ng
IDH1 Mutation Detection – Identification of codon 132 mutations in IDH1 gene
IDH2 Mutation Detection – Identification of codon 140 and 172 mutations in IDH2 gene
Performing Laboratory / Facility
UCLA Molecular Diagnostics Laboratories (MDL)
Performing Section
Molecular Pathology
Availability
Monday through Friday, 0700-1700
Turnaround Time
2-5 business days from receipt of specimen in performing lab
Methodology
IDH1 and IDH2 Idylla Assay is a real- time PCR assay using a cartridge -based design for the detection of somatic mutations in IDH1 and IDH2 genes. The test detects mutations of R132C/H/G/S/L in codon 132 of the IDH1 gene. The test also detects mutations R140Q/L/G/W and R172K/M/G/S/W in codon 172 of the IDH2 gene.
Use
The mutations in IDH1 or IDH2 are prevalent in various types of cancer, including but not limited to glioma, periosteal chondroma, chondrosarcoma, acute myeloid leukemia (AML) and cholangiocarcinoma. Targeted therapies are approved by the U.S. Food and Drug Administration (FDA) and/or recommended by National Comprehensive Cancer Network (NCCN) for the treatment of different malignancies with IDH1 or IDH2 mutations under certain circumstances, including AML, myelodysplastic syndromes, astrocytoma, oligodendroglioma, and chondrosarcoma.
Limitations
IDH1 and IDH2 Mutation Test can detect ≥5% of a mutant allele. IDH1 and IDH2 mutations other than those listed above will not be detected. This assay cannot differentiate among mutations at the same codon. Preparation of DNA from whole blood and bone marrow samples is dependent on the quality of the specimen provided. A negative (no mutation detected) result does not preclude the presence of such a mutation since results depend on, among other factors, mutant allele frequency, specimen integrity, absence of inhibitors and/or interfering polymorphisms, and availability of sufficient DNA for detection.
Specimen Collection and Handling
Specimen Type
Whole blood
Bone marrow
Extracted DNA
Container
Lavender/EDTA
Volume
Whole blood – 4 mL
Bone marrow – 4 mL
Extracted DNA – 200ng
Minimum Volume
Whole blood – <1 mL, if sufficient DNA is extracted from the blood
Bone marrow – <1 mL, if sufficient DNA is extracted from the bone marrow
Extracted DNA – 100ng
