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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pyruvate Metabolism and Related Disorders Panel

Invitae
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Combined oxidative phosphorylation deficiency 19, 615595, Autosomal recessive; COXPD19 (Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency) (LYRM4 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Combined oxidative phosphorylation deficiency 19, 615595, Autosomal recessive; COXPD19 (Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency) (LYRM4 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Combined oxidative phosphorylation deficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3939
  • C Sequence analysis of the entire coding region

Mitochondrial Diseases (mtDNA and 217 nuclear genes)

Asper Biogene Asper Biogene LLC
Estonia
89210
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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