Lab Test

Test Definition Number : 27
Test Definition Name : IDH1 and IDH2 sequence analysis
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1145
Lab Test Name : IDH1 and IDH2 Mutation Analysis
Status : Active
Expired : No
Updated : 2017-09-21 17:19 EDT

General Attributes

Chromosome Band : 2q34
HUGO Gene Name : [IDH1] isocitrate dehydrogenase 1 (NADP+), soluble
[IDH2] isocitrate dehydrogenase 2 (NADP+), mitochondrial
ICD-Oncology Code
(includes WHO classification diagnoses)

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Polymerase Chain Reaction (PCR)
Sequencing - Sanger - Bi-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
Bone Marrow Aspirate
Solid Tissue Paraffin-Embedded Formalin-Fixed
ICD-10 Code :
Use :
Genetics Category :
Comments : Mutations in isocitrate dehydrogenase enzyme isoforms 1 (IDH1) and 2 (IDH2) have been found in 70% of grade II-IV gliomas and in approximately 15% of acute myeloid leukemias (AML). These mutations alter arginine 132 (R132) in IDH1, and either R140 or R172 in IDH2. In AML, presence of these mutations confers an adverse prognosis and will likely be the target for drugs in development. DNA is purified and extracted from leukemia and/or solid tumor cells (with macro-dissection if required). Screening for mutations is then performed by one of two methods: PCR amplification of IDH targets followed by bidirectional Sanger sequencing of each exon; or real-time PCR with high resolution melting curve analysis (HRM) followed by reflex sequencing to confirm positive HRM screens.
Specimen Transport Requirements : 5-10mL Blood or Bone Marrow (ACD or EDTA) Package and ship specimens to remain cold, but not frozen. Paraffin block or 10 unstained sections (4-5 micron) Package and ship samples at room temperature. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes


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