IDH1 R132H Point Mutation by Immunohistochemistry with Reflex to IDH1 and IDH2 Mutation Analysis, Exon 4

Casandra

Casandra Test Code AR95174Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3002134CPT Code 88342

IDH1 R132H Point Mutation by Immunohistochemistry with Reflex to IDH1 and IDH2 Mutation Analysis, Exon 4

Also known as: IDH1 RFLX

Clinical Use

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Use

This test is used to identify the most common IDH1 mutation in diffuse gliomas, specifically the IDH1 R132H mutation. It serves as a screening tool for molecular testing. A positive result indicates a probable IDH1 R132H mutation, while a negative result will reflex to IDH1 and IDH2 gene sequencing to detect less common mutations not identified by this test.

Special Instructions

Not provided.

Limitations

This test is performed on FFPE tissue only and will not detect variants outside of the targeted regions or below the limit of detection. It cannot distinguish between somatic and germline variants, and therefore, additional clinical evaluation and genetic counseling should be considered if hereditary cancer is a concern. RNA variants and other variant types like copy number, methylation, and translocations will not be detected.

Test Details

New York Approved

Methodology

Immunoassay (IHC)

Biomarkers

IDH1 R132H

Protein

IHC

Expression • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Result Codes

94736-6 - Tissue block ID Spec
31208-2 - Specimen source

Result Turnaround Time

1-5 days

Specimen

Tissue (FFPE)

Volume

Not provided

Minimum Volume

4 slides

Container

Paraffin block or 7 unstained (5-micron thick sections) positively charged slides

Collection Instructions

Formalin fix (10 percent neutral buffered formalin is preferred) and paraffin embed specimen. Transport tissue block or slides in a tissue transport kit (ARUP supply #47808). If sending precut slides, do not oven bake.