Effective January 3, 2014, the Medical Genetics Laboratories at Baylor College of Medicine will supplant test codes 3000, 3005, and 3006 with test code 2010.
The discontinued test codes are:
- Test Code 3000 – Mitochondrial DNA Common Mutations and Deletions Screen
- Test Code 3005 – Mitochondrial DNA Point Mutation Quantification
- Test Code 3006 – Reflex test for positive point mutations detected by test code 3000
Test Code 2010 – Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM) is superior to the discontinued tests in many respects. The new features of the Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM) are:
- Targets 36 common Point mtDNA mutations vs. 12 targeted mutations in the discontinued test code 3000.
- Simultaneous detection of Point mutations and their heteroplasmy levels.
- NGS technology provides more robust and accurate heteroplasmy measurement than the ARMS qPCR methodology utilized by the discontinued test codes 3005 and 3006.
- Accurate detection of heteroplasmies as low as 1.5%.
- Detection of single and multiple mtDNA deletions with much higher sensitivity than Southern blot analysis.
- Simultaneous detection of mtDNA deletions and breakpoints. Unlike Southern analysis, both the exact size and breakpoints of single deletions are obtained and reported.