Effective November 17, 2014, the Medical Genetics Laboratories at Baylor College of Medicine will discontinue the following tests:
- 2103-CoQ10 Deficiency Deletion/Duplication Panel
- 2104-CoQ10 Comprehensive Panel (Massively Parallel Sequencing and Deletion/Duplication Analysis)
- 2123-Cobalamin Metabolism Deletion/Duplication Panel
- 2124-Cobalamin Metabolism Comprehensive Panel (Massively Parallel Sequencing and Deletion/Duplication Analysis)
- 2143-PEO Deletion/Duplication Panel
- 2144-PEO Comprehensive Panel (Massively Parallel Sequencing and Deletion/Duplication Analysis)
- 5098-CDG Deletion/Duplication Analysis
- 5099-CDG Comprehensive Panel (Massively Parallel Sequencing and Deletion/Duplication Analysis)
- 5253-FEVR Panel Deletion/Duplication
- 5254-FEVR Comprehensive-NGS and Deletion/Duplication Analysis
- 5258-POAG Deletion/Duplication Analysis
- 5259-POAG Comprehensive-NGS and Deletion/Duplication Analysis
- 5263-DG Deletion/Duplication Analysis
- 5264-DG Comprehensive-NGS and Deletion/Duplication Analysis
In place of the tests above, we will provide copy number analysis for genes in each panel using NGS data. If there is an indication of copy number change, a targeted array CGH will be performed for confirmation at no additional charge. If only one mutation is detected in an autosomal recessive form of disorder, a targeted array CGH can be added as a reflex test with the options below:
- Gene specific aCGH tests – Please check our website for test codes
- 2001 – Targeted aCGH Analysis for evaluation of a single gene
- 2003 – Targeted aCGH Analysis for evaluation of multiple genes
