Fatty Acid Oxidation Disorders Panel, Sequencing

Casandra

Casandra Test Code AR14711Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001851CPT Codes 81404, 81405, 81406, 81479

Fatty Acid Oxidation Disorders Panel, Sequencing

Also known as: FAOD NGS

Clinical Use

Order Test

Use

Fatty acid oxidation disorders are a group of inherited metabolic conditions that can present with a variety of symptoms including hypoketotic hypoglycemia, lethargy, seizures, and more severe outcomes such as sudden death. These disorders result from pathogenic variants in genes responsible for fatty acid metabolism, and their clinical presentation can be highly variable depending on the specific genetic mutations involved. This test is intended for individuals showing clinical signs of a fatty acid oxidation disorder to aid in diagnosis by identifying pathogenic variants in associated genes.

Special Instructions

Testing is not approved for New York state. Specimens from New York clients will be sent to a state-approved lab. The test requires counseling and informed consent prior to genetic testing. Consent forms must be submitted with orders for New York patients. Use the provided Fatty Acid Oxidation Disorders Panel Patient History Form.

Limitations

This assay may not detect deletions/duplications/insertions of any size, regulatory region variants, or large deletions/duplications. Variants may not be identified due to technical limitations including pseudogenes and homologous regions. The test does not detect low-level mosaic or somatic variants, gene conversion events, mitochondrial DNA mutations, or repeat expansions. Diagnostic errors may occur due to rare variants. Noncoding regions and certain exons of LPIN1 may not be sufficiently covered.

Test Details