This panel includes Nuclear Mitochondrial genes and mitochondrial genome (mtDNA) analysis.This genetic test includes a comprehensive panel that analyzes both nuclear mitochondrial genes and the mitochondrial genome (mtDNA). The nuclear mitochondrial genes are located in the nuclear DNA and are crucial for mitochondrial function, as they encode proteins involved in mitochondrial processes. In contrast, the mitochondrial genome (mtDNA) is a small circular DNA found within the mitochondria, inherited maternally, and contains genes critical for energy production.The test examines mutations and variants in both the nuclear mitochondrial genes and mtDNA, which can provide insights into disorders affecting mitochondrial function. These conditions often impact energy metabolism, leading to a range of symptoms such as muscle weakness, neurological issues, and metabolic problems. This dual analysis enhances the detection of mitochondrial diseases by capturing mutations from both nuclear and mitochondrial origins.

4-6 weeks

NGS

EDTA Blood ,DNA

This panel includes the 16.5-kb mitochondrial genome (mtDNA) containing 37 genes, all of which are essential for normal mitochondrial function, which is passed down maternally from mother to child. This test is used to trace maternal ancestry, identify genetic mutations linked to certain inherited mitochondrial disorders, and investigate conditions related to energy production defects in the body, as mitochondria play a critical role in cellular energy metabolism. Unlike nuclear DNA, mtDNA is inherited only from the mother, making it useful for studying maternal lineage and diagnosing diseases related to mitochondrial dysfunction. This test includes mitochondrial genes. Nuclear mitochondrial genes are not included. ≥5% mitochondrial heteroplasmy can be confidently detected. By encompassing the entire genome, WGS provides a complete genetic profile, aiding in diagnosis, treatment planning, and understanding of complex traits or diseases.

4-6 weeks

NGS

EDTA Blood ,DNA