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Fatty Acid Oxidation Disorders Panel, Sequencing
Ordering Recommendation
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA)
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Pediatric Min: 1.5 mL)
New York State Clients: 5 mL (Min: 3 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush or swab. FFPE tissue.
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
Refer to report
Interpretive Data
Refer to report.
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
When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.
Hotline History
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 |
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
