The MECR gene located on chromosome 1 encodes the mitochondrial trans-2-enoyl-CoA reductase enzyme, a key protein in mitochondrial fatty acid synthesis (mtFAS).
Unfortunately, none of the DNA chips used by the major direct-to-consumer genomics companies currently return results for the pathogenic MECR gene mutations. Until that changes, only sequencing based approaches (such as whole exome or genome) will reveal carriers of one or more of the known pathogenic variants.
MEPAN Foundation is a US-based advocacy organization dedicated towards awareness and support for research towards MEPAN Syndrome: https://www.mepan.org - the leading researcher in the US on MECR/MEPAN is Dr. Susan Hayflick at Oregon Health & Science University. The contact info for her lab is below along with Allison Gregory, the genetic counselor in the Hayflick Lab.
Allison Gregory, MS, CGC
Molecular & Medical Genetics
Oregon Health & Science University
3181 SW Sam Jackson Park Rd. L103
Portland, OR 97239 USA
There are only a few genetic testing labs that include MECR in specific genetic screenings, as MECR is still relatively new as far as known pathogenicity, but the gene now being included more often in generic whole exome tests, and labs are beginning to include MECR in relevant screening panels, such as those for dystonia, ataxia, and Ashkenazi Jewish carrier screens.
Single gene test - CPT code 81479x2
- Spastic Paraplegia - test code NGS337
- Comprehensive Dystonia - test codes NGS358 and NGS409 (includes HTT repeat expansion analysis)
- Comprehensive Neuropathies - test code NGS445