3001851
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Fatty Acid Oxidation Disorders Panel, Sequencing

FAOD NGS
Example Reports
Negative
Positive

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Fatty Acid Oxidation Disorders (FAOD) Panel Patient History Form

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Additional Technical Information

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).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA)
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Pediatric Min: 1.5 mL)
New York State Clients: 5 mL (Min: 3 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: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

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 U.S. 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

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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

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