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GeneDx expands its metabolic disorders test menu
Mon, 08/25/2008 - 18:28
GeneDx expands its metabolic disorders test menu to include full sequence analysis for the following metabolic disorders:
- Glutaric Aciduria Type 1 (GA1) (GCDH gene)
- Glutaric Aciduria II (GAII) or Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) (ETFA, ETFB, and ETFDH genes)
- HMG CoA Lyase Deficiency (HMGCL gene)
- Holocarboxylase Synthetase Deficiency (HLCS gene)
- Isovaleric Acidemia (IVD gene)
- Ornithine Transcarbamylase (OTC) Deficiency (OTC gene)
These sequencing tests are useful to confirm a biochemical diagnosis, for carrier testing and in prenatal diagnosis for at-risk pregnancies.