COENZYME Q10 DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Coenzyme Q10 Deficiency Panel analyzes 16 genes involved in the biosynthesis and recycling of coenzyme Q10 (ubiquinone), an essential component of the mitochondrial respiratory chain and cellular energy metabolism. Primary or secondary CoQ10 deficiencies can manifest as myopathies, encephalopathies, cerebellar ataxia, nephropathies, or multisystem syndromes with neuromuscular and renal involvement. Among the most relevant genes are COQ2, COQ6, COQ8A (ADCK3), and COQ9, associated with primary forms presenting in childhood or adolescence, while PDSS1 and PDSS2 participate in the initial stages of the molecule's synthesis. Genes such as ETFA, ETFB, and ETFDH are also included, which can cause secondary deficiencies due to alterations in fatty acid oxidation. The study is performed using next-generation sequencing (NGS) to detect SNVs, indels, and CNVs in genes related to the biosynthetic and functional pathway of Coenzyme Q10. Genes included: ANO10, APTX, BRAF, COQ2, COQ4, COQ5, COQ6, COQ8A, COQ8B, COQ9, ETFA, ETFB, ETFDH, MVK, PDSS1, PDSS2.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€