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Clear
 
Test Code:
PATHTSOD7040

Order Name:
IDH 1/2 mutation (Outside lab)

 
Useful For:
1. Supporting a morphological diagnosis of a diffuse glioma
2. Assisting in central nervous system tumor classification
3. Stratifying prognosis of diffuse gliomas
4.Supporting the differential diagnosis of chondroid bone tumors
Stratifying prognosis of acute myeloid leukemia
 
Methodology:
Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing
 
 
 
Test Code:
PATHTSOD7040

Order Name:
IDH 1/2 mutation (Outside lab)

 
Collection Specimen Or Container:
Paraffin embedded tissue block
 
Specimen Testing Type:
Paraffin embedded tissue block
 
Sub Mission Container:
Paraffin embedded tissue block
 
Rejection Criteria:
Specimens that have been decalcified (all methods); specimens that have not been formalin-fixed, paraffin-embedded; bone marrow in EDTA
 
Specimen Stabillity:
 
Specimen Type Temperature
Paraffin embedded tissue block Room temperature
 
 
 
Test Code:
PATHTSOD7040

Order Name:
IDH 1/2 mutation (Outside lab)

 
Schedule:
Tested daily, at 08:00 am. - 06:00 pm.
 
Turnaround Time:
2-3 weeks
 
Performing Location:
Surgical Pathology, Laboratory Department Tel.14146
 
 
 
Test Code:
PATHTSOD7040

Order Name:
IDH 1/2 mutation (Outside lab)

 
 
Clinical Information:
IDH1 and IDH2 (IDH) genes encode dehydrogenase enzymes that are involved in cellular glucose metabolism and oxidative damage control. IDH mutations, primarily involving codons R132 in IDH1 and R172 in IDH2, result in reduction of the enzyme physiological activity and gain of a neomorphic ability to generate oncometabolite R(-)-2-hydroxyglutarate, which contribute to tumorigenesis by altering numerous cellular responses, including genome-wide epigenetic changes that characterize the glioma CpG island methylator phenotype (G-CIMP). IDH mutations seem to be an early event in gliomagenesis and have been identified in over 70% of lower-grade (grades II/III) diffuse gliomas and secondary glioblastoma. These mutations are rarely seen in other central nervous system tumors and are not seen in reactive non-neoplastic processes, and define a group of lower and high-grade diffuse gliomas associated with a more favorable prognosis. Assessment of IDH mutation status in central nervous system tumors may assist in tumor classification and provide prognostically relevant information for subgroups of patients with diffuse gliomas

IDH1 and IDH2 gene mutations are also observed in a variety of non-CNS tumor types. Assessment of IDH mutation status may assist in the differential diagnosis of chondroid bone tumors and provide prognostically relevant information in other contexts, such as in the setting of acute myeloid leukemia (AML)
 
Clinical Reference:
1. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/92361
(Retrived 19 MAR 19)