MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes

LabGenetics
Caja de MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM: CLINICAL EXOME PANEL (Sec. & CNVs) – 5 genes

The Mitochondrial DNA Depletion Syndrome panel, hepatocerebral form, analyzes five genes associated with childhood liver failure and mitochondrial encephalopathies. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it identifies defects in genes involved in mitochondrial DNA maintenance and energy homeostasis. This analysis is crucial for confirming the diagnosis, guiding treatment, and defining prognosis and providing family genetic counseling. Genes included: DGUOK, MPV17, POLG, TFAM, TWNK.

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