Mitochondrial respiratory chain complex deficiency panel

Mitochondrial respiratory chain complex deficiency panel

[45 genes]

TOURNAROUND TIME: 6 WEEKS

ACAD9 APOPT1 BCS1L COA3 COX10 COX14 COX15 COX20 COX8A CYC1
FASTKD2 FOXRED1 LRPPRC LYRM7 NDUFA12 NDUFA2 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2
NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4
NDUFS7 NDUFS8 NDUFV1 NFU1 NUBPL PET100 SCO1 SDHA SDHAF1 SURF1
TACO1 TMEM126B TTC19 UQCRC2 UQCRQ
ACAD9 APOPT1 BCS1L COA3
COX10 COX14 COX15 COX20
COX8A CYC1 FASTKD2 FOXRED1
LRPPRC LYRM7 NDUFA12 NDUFA2
NDUFA8 NDUFA9 NDUFAF1 NDUFAF2
NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6
NDUFB11 NDUFB9 NDUFS1 NDUFS2
NDUFS3 NDUFS4 NDUFS7 NDUFS8
NDUFV1 NFU1 NUBPL PET100
SCO1 SDHA SDHAF1 SURF1
TACO1 TMEM126B TTC19 UQCRC2
UQCRQ

Mitochondrial disorders are overall the most common group of inherited metabolic diseases, and they are among the most frequent hereditary neurological diseases.

They are clinically heterogeneous, can occur at any age, and generally manifest with a wide array of clinical symptoms, usually being defined as multisystem diseases. Some mitochondrial disorders can be grouped into specific syndromes such as Leigh syndrome (subacute necrotizing encephalomyelopathy), MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), or Alpers-Huttenlocher syndrome. Diagnosis is usually based on clinical criteria, as well as on biochemical and histochemical analysis of biopsies. Genetic study contributes to the improved clinical and molecular characterization of these patients and allows providing adequate genetic advice for the individuals and their families.

The prevalence of childhood-onset mitochondrial diseases is 5-15/100 000 individuals (Gorman et al., 2014). The most common form of

presentation is Leigh syndrome (2.5/100 000). The prevalence in adults is estimated in 9.6/100 000 (due to mtDNA mutations) and 2.9/100 000 (due to mutations in nuclear genes).

The mitochondrial defect can be caused by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) genes. With regard to genetic suspicion, it is worth noting that 80% of mitochondrial diseases in adults are due to pathogenic variants in mtDNA; however, these variants only account for 20%-25% of childhood-onset cases (in which nuclear genes have a greater importance) (Gorman et al., 2014).

We have developed a selection of specific panels for the study of mitochondrial diseases based on the main biochemical findings, as well as a core panel for the study of nuclear gene-encoded Leigh syndrome, with a comprehensive panel including 174 known genes for mitochondrial diseases.

REFERENCES
  1. Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers. 2016 Oct 20;2:16080.

 

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INFORMED CONSENT
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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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