MITOCHONDRIAL COMPLEX V DEFICIENCY (NUCLEAR GENES): CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Mitochondrial Complex V Deficiency Panel analyzes four nuclear genes involved in the biogenesis and function of complex V (ATP synthase), which is responsible for ATP synthesis from the proton gradient generated in the mitochondrial respiratory chain. Alterations in these genes can cause mitochondrial encephalomyopathies, metabolic myopathies, lactic acidosis, and Leigh syndrome, with variable clinical presentations. Some of the included genes are ATP5F1A, ATP5F1E, ATPAF2, and TMEM70. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows for the identification of mutations responsible for complex V dysfunction.
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€