Invitae Elevated Succinylacetone Test
Use
The Invitae Elevated Succinylacetone test analyzes the FAH gene, which is associated with elevated succinylacetone (the biochemical hallmark of tyrosinemia type 1) on newborn screening (NBS) or blood and urine organic acid analysis. Genetic testing of this gene may confirm a diagnosis of fumarylacetoacetate hydrolase (FAH) deficiency and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. Affected infants may or may not show elevated plasma tyrosine, which can also be a nonspecific indicator of liver damage or immaturity.
Special Instructions
Contact client services with any questions regarding limitations in the analysis of these genes. This report reflects the analysis of an extracted genomic DNA sample. In rare cases, the analyzed DNA may not represent the patient's constitutional genome. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test.
Limitations
Certain types of variants, such as structural rearrangements or variants embedded in sequence with complex architecture, may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Some single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)