Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies
Use
This test is useful for diagnosing mitochondrial disease due to variants in nuclear-encoded genes. It serves as a second-tier test for patients with negative results in previous targeted gene variant analyses for mitochondrial disease-related genes. The test helps identify variants in nuclear genome genes associated with mitochondrial disease, enabling predictive testing for at-risk family members. Detection of disease-causing variants may assist with diagnosis, prognosis, management, familial screening, and genetic counseling for nuclear mitochondrial disease.
Special Instructions
Prenatal specimens may incur additional charges for amniotic fluid culture, fibroblast culture, and maternal cell contamination testing. For skin biopsy or cultured fibroblast specimens, a fibroblast culture is performed at an additional charge. If viable cells are not obtained, the client will be notified. Cord blood specimens with accompanying maternal blood require maternal cell contamination studies, also at an additional charge.
Limitations
The test utilizes next-generation sequencing to identify single nucleotide and copy number variants in 221 genes associated with nuclear mitochondrial disease. It focuses on known disease-associated genes. Negative results do not exclude the presence of a disease-causing variant in genes not included in the panel or in non-sequenced regions of analyzed genes. Technical limitations may include issues with sequence coverage, and some variants might not be detected due to limitations in current technologies.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided