Propionic Acidemia Panel
Use
The Propionic Acidemia Panel is intended for individuals with clinical or suspected diagnosis of propionic acidemia, those identified through newborn screening with elevated C3 (propionylcarnitine), individuals with elevated 3-hydroxypropionate and the presence of methylcitrate, tiglylglycine, propionylglycine, and lactic acid in urine organic acids, or individuals with abnormal propionyl-CoA carboxylase enzyme activity in lymphocytes or fibroblasts.
Special Instructions
Testing is done using NGS with CNV technologies either on Exome or Genome platforms.
Limitations
Interpretation of test results should consider all available clinical information and family history as test limitations include inability to detect all mutations causing propionic acidemia and false negatives or positives depending on quality of sample and mutant allele sequence coverage.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided