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Test ID: IDH1 / IDH2
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IDH1 and IDH2 Mutation Analysis
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IDH1 and IDH2 mutation detection by sequencing.
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Useful For
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Diagnostic molecular biomarker in patients with Gliomas. Diagnosis of oligodendroglioma and anaplastic oligodendroglioma requires mutation in IDH gene and loss of 1p and 19q (1p/19q codeletion).
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Method name and description
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PCR amplification is done by using primers specific for exon 4 of the IDH1 gene and exon 4 IDH2 gene. The resulting PCR products are purified and sequenced to look for the presence of mutations. Sequencing analysis is performed using Genetic analyzer.
Bidirectional DNA sequencing is used to determine the order of the nucleotide bases (adenine, guanine, cytosine, and thymine) in a molecule of DNA.
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Reporting name
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IDH1/IDH2 mutation analysis:
Detected: indicates presence of mutation.
No mutation detected: indicates absence of mutation.
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Clinical information
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Brain tumors highly rely on molecular genetic to aid in classification, to offer prognostic value and to predict response to therapy. Mutations in IDH1 are frequent (70%-80%) in WHO grade II and III astrocytomas, oligodendrogliomas, and oligoastrocytomas, as well as glioblastomas. Over 90% of IDH1 mutations in diffuse gliomas resulting in an amino acid change from arginine to histidine (R132H) in exon 4. Tumors of childhood that histologically resemble oligodendroglioma often do not demonstrate IDH gene mutation and 1p/19q Co-deletion.
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Specimen type / Specimen volume / Specimen container
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FFPE tissue:
Option 1: Tissue sections of 10X (5-7 µm) fixed on non-charged slides with an H&E stained slide with marked tumor area.
Option 2: Tissue curls of 6 sections (10 µm) collected in 2 mL tube (e.g. Eppendorf).
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Collection instructions / Special Precautions / Timing of collection
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Specimens are arranged from Sunday to Wednesday from the Anatomical Pathology Department to the Molecular Genetics Laboratory at room temperature.
Please avoid direct sun light exposure.
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Relevant clinical information to be provided
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The following points must be provided:
- The tumor rich area on the must be marked by a consultant pathologist.
- Tumor percentage.
- Cancer type.
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Storage and transport instructions
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The specimens are stored and transported at Room Temperature (16 - 25° C).
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Specimen Rejection Criteria
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Consistent with Diagnostic Genomic Division policies
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Biological reference intervals and clinical decision values
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Detected amplifications of the mutant target with mutant allele frequency >20% are referred as Detected.
No amplification of the mutant allele due to low mutant allele frequency (<20%) or due to absence of mutant target are referred as No mutation detected.
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Factors affecting test performance and result interpretation
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This test was validated for DNA extraction from FFPE, the FFPE process has effect on the DNA quality and might result on DNA degradation. In addition, PCR inhibitors due to FFPE fixation might affect the PCR amplification.
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Turnaround time / Days and times test performed / Specimen retention time
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Days Test is Performed: Arranged by laboratory Rota.
Single gene testing: 10 working days.
Reflex testing: 10 working days for the first test and an additional week (5 working days) for every following test.
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