Organic Aciduria Panel
Use
This test is designed for individuals with clinical or suspected organic aciduria, individuals with biochemical evidence of organic acid accumulation in blood or urine, and individuals experiencing metabolic decompensation episodes, particularly in early life.
Special Instructions
Patients are advised to be aware of the test's ordering process and associated options, such as the availability of Exome-wide CNV analysis as an additional service. STAT testing is available, which incurs a surcharge but offers expedited results. It is important to consider the specific requirements for specimen collection and the potential need for consultation regarding test selection and result interpretation.
Limitations
The test offers a comprehensive analysis of 41 genes involved in organic acidurias but may not detect all genetic variants associated with organic acidurias. There may be cases where not all DNA variants are identified due to limitations inherent to the testing methodology, like issues stemming from complex genomic regions or unexpected technical difficulties during sequencing. The test has limitations in detecting low-level mosaicism and large genetic rearrangements outside of specified CNV capability.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided