ACADVL gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

ACADVL Full Mut Anl Bld/T Seq

Definition

Mutations in the ACADVL gene are responsible for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. Diagnostic testing is performed for at-risk individuals who have symptoms of VLCAD deficiency. Testing may also be performed for carrier screening of at-risk individuals in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or disease-causing mutations have not been identified. The submitter's lab performs DNA sequencing test for the presence of a mutation(s) in all 20 coding exons of the ACADVL gene. The answer list provide with the term is an example and not an complete representation of mutations that may be found.

ACAD6; ACADVL mut anl; acyl-CoA dehydrogenase, very long chain; Blood; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Identity or presence; Inherited; LCACD; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Nominal; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; VLCAD; WB; Whole blood; Whole blood or Tissue