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Invitae Fatty Acid Oxidation Defects Panel

Test code: 06165

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In addition to insurance and patient-pay billing options, this test is also available through a sponsored, no-charge testing program.

Test description

The Invitae Fatty Acid Oxidation Defects Panel analyzes genes that are known to be involved in the mitochondrial fatty acid oxidation pathway. Each fatty acid oxidation disorder (FAOD) is due to a specific enzyme or transporter defect in the fatty acid oxidation metabolic pathway. The FAODs are genetically heterogeneous.

This test may be appropriate for anyone in whom a diagnosis of an FAOD is suspected based on clinical symptoms, laboratory findings, or a combination of both. Additionally, many of these genes cause conditions tested on the Newborn Screening (NBS) panel. The Invitae FAOD Panel may be appropriate for infants who have a presumptive positive biochemical test on NBS, for sick or premature infants with confounding factors complicating NBS interpretation, and even for infants with a normal result on a prior NBS. Many FAODs are episodic, and abnormal metabolites may only be detected during a period of physiologic stress or metabolic crisis.

Disorders tested

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.
Learn more about specimen requirementsRequest a specimen collection kit

Clinical description

To view the complete clinical description of this panel, click here.

Clinical description

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Assay information

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You can customize this test by clicking genes to remove them.

Primary panel

25 genes selected
ACAD9
ACADM
ACADS
ACADSB
ACADVL
CPT1A
CPT2
ETFA
ETFB
ETFDH
FLAD1
HADH
HADHA
HADHB
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