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NEWS: December 6, 2011
DNA Diagnostics:
- Welcome Dr. Steven Sperber, MS, PhD, FACMG, Assistant Director of the DNA Diagnostic Laboratory
- NEW: aCGH, Targeted Exonic Microarray for many genes on our list - Dup/Del
- NEW Sequencing Tests: CYBB, CYBA, PNPO, PTEN, POLG1, SLOS, WFS1
- NEW sections listed: Neonatal Epilepsy; Immune Disorders (incl. CGD, Chronic Granulomatous Disease)
Highlighted Biochemical Tests:
- Mitochondrial electron transport chain enzyme activity assays
- VLCAD enzyme activity assay -- cultured fibroblasts or leukocytes (for leukocytes, please call the laboratory first to confirm your shipping date)
- 2-Hydroxyglutaric acid enantiomers (D- versus L-)
Upcoming Holiday Closures
The labs will be closed on:
- Monday, Dec. 26, 2011
- Tuesday, Dec. 27, 2011
- Monday, Jan. 2, 2012
- Monday, Jan. 16, 2012
- Monday, Feb. 20, 2012