Ordering Recommendation

Preferred molecular test to confirm or rule out a diagnosis of a fatty acid oxidation disorder following clinical and/or biochemical presentation. Also refer to Acylcarnitine Quantitative Profile, Plasma (0040033), Carnitine Panel (0081110), and Organic Acids, Urine (0098389).

Mnemonic

FAOD NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or Pink (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Pediatric Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma, grossly hemolyzed or frozen specimens, Saliva, Buccal brush or swab. FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

This test was developed, and its performance characteristics determined, by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: ACAD9, ACADM, ACADS, ACADVL, ACAT1, CPT1A, CPT2, ECHS1, ETFA, ETFB, ETFDH, FLAD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1*, MLYCD, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3.
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information

Hotline History

N/A

CPT Codes

81404; 81405; 81406; 81479

Components

Component Test Code* Component Chart Name LOINC
3001852 Fatty Acid Oxidation Disorders Specimen
3001853 Fatty Acid Oxidation Disorders Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • ACAD9 deficiency
  • ACADM deficiency
  • ACADS deficiency
  • acute fatty liver pregnancy (AFLP)
  • acute recurrent myoglobinuria
  • and low platelet (HELLP) syndromes
  • beta-ketothiolase deficiency
  • Brown-Vialetto-Van-Laere syndrome 1
  • Brown-Vialetto-Van-Laere syndrome 2
  • CACT deficiency
  • carnitine transport defect
  • carnitine uptake defect
  • carnitine-acylcarnitine translocase deficiency
  • congenital hyperinsulinism
  • CPT II deficiency
  • CPT1A deficiency
  • ECHS1 deficiency
  • elevated liver enzymes
  • familial hyperinsulinemic hypoglycemia
  • fatty acid oxidation defects
  • Fatty acid oxidation disorders
  • Fazio-Londe syndrome
  • flavin adenine dinucleotide synthetase deficiency
  • GA2
  • GAII
  • glutaric acidemia II
  • glutaric aciduria II
  • HADH deficiency
  • HMG-CoA lyase deficiency
  • HMG-CoA synthase-2 deficiency
  • HSD10 mitochondrial disease
  • HSD17B10 deficiency
  • hypertension
  • LCHAD deficiency
  • lipid storage myopathy
  • LPIN1 deficiency
  • MADD type I
  • MADD type II
  • MADD type III
  • MADD-like illness
  • malonyl-CoA decarboxylase deficiency
  • MAT deficiency
  • MCAD deficiency
  • mitochondrial complex I deficiency
  • mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
  • MLYCD deficiency
  • multiple acyl-CoA dehydrogenase deficiency
  • persistent hyperinsulinemic hypoglycemia of infancy (PHHI)
  • primary carnitine deficiency
  • riboflavin deficiency
  • riboflavin transporter deficiency 1
  • riboflavin transporter deficiency 2
  • riboflavin transporter deficiency 3
  • SCAD deficiency
  • systemic primary carnitine deficiency
  • T2 deficiency
  • trifunctional protein deficiency
  • VLCAD deficiency
Fatty Acid Oxidation Disorders Panel, Sequencing