Congenital Lactic Acidosis Panel, Varies
Use
This test is useful for the follow-up of abnormal biochemical results suggestive of congenital lactic acidosis. It helps in establishing a molecular diagnosis for patients with congenital lactic acidosis and identifies variants within genes known to be associated with the condition, which allows for predictive testing of at-risk family members. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
See Targeted Genes and Methodology Details for additional information. Additional first tier testing may be considered/recommended; see Ordering Guidance.
Limitations
This test utilizes next-generation sequencing (NGS) to detect single nucleotide and copy number variants in 28 genes associated with congenital lactic acidosis. It includes mitochondrial genome sequencing to evaluate variants within the mitochondrial genome. Technical limitations might arise in detecting certain variants due to the technology used.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided