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Test ID: HFAOP    
Fatty Acid Oxidation Gene Panel, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder

 

Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder

 

Identifying variants within genes known to be associated with a fatty acid oxidation disorder, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 44 genes associated with fatty acid oxidation disorders: ACAA2, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACOT9, ALDH5A1, CPT1A, CPT2, DECR1, ECHS1, ECI1, ETFA, ETFB, ETFDH, ETHE1, FLAD1, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, MLYCD, NADK2, OPA1, PPARG, SLC22A5, SLC25A20, SLC25A29, SLC25A32, SLC52A1, SLC52A2, SLC52A3, TANGO2, TAZ. See Targeted Genes and Methodology Details for Fatty Acid Oxidation Gene Panel in Special Instructions and Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for fatty acid oxidation disorders.

 

Additional first-tier testing may be considered/recommended. For more information see Advisory Information.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Fatty Acid Oxidation Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

NextGen Sequencing Test
Isobutyryl-CoA dehydrogenase deficiency
Mitochondrial complex I deficiency, nuclear type 20
ACADM
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Carnitine Palmitoyltransferase II (CPT2) Deficiency
Glutaric academia
Long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency
Malonyl-CoA decarboxylase deficiency
Carnitine deficiency