Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (FASTKD2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (PET100 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX8A gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (APOPT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX6B1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX14 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (SCO1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX10 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex 1 deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFAF5 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (TACO1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX20 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX6B1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX8A gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX14 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (COX20 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial complex IV deficiency, 220110, Autosomal recessive, Mitochondrial (Isolated cytochrome C oxidase deficiency) (SCO1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
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Mitochondrial Complex IV Deficiency via the COX10 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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OXA1L - Combined oxidative phosphorylation deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 | - C Sequence analysis of the entire coding region
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SCO1 - Mitochondrial complex IV deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 | - C Sequence analysis of the entire coding region
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