MM05-A

Nucleic Acid Amplification Assays for Molecular Hematopathology; Approved Guideline

The use of gene rearrangement in diagnostic hematopathology is now a standard of practice for which recommendations for assay performance and application have been developed. During the period of development, however, a shift has occurred in the way that gene rearrangement assays are accomplished. Now, many laboratories are performing assays first using polymerase chain reaction (PCR). Amplification methods, including polymerase chain reaction (PCR) and reverse-transcriptase polymerase chain reaction (RTPCR), transcription-based amplification (TAS), strand displacement amplification (SDA), ligase chain reaction (LCR), and other methods are now widely used in diagnostic hematopathology. This guideline addresses the needs of the laboratory community by providing guidance on a variety of amplification-based laboratory tests. It addresses preanalytical and analytical factors affecting assay performance, reporting of laboratory results, and quality assurance issues. Immunoglobulin and T-cell receptor gene rearrangement assays, assays for chromosomal translocations, and sequence analysis assays are all considered. The guideline thus provides a basis for laboratory implementation and quality assurance in this important area of diagnostic molecular medicine.