Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre
Canada | 48 | 52 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
MVL Vision Panel Molecular Vision Laboratory
United States | 1358 | 1028 | - C Sequence analysis of the entire coding region
|
Invitae Nuclear Mitochondrial Disorders Panel Invitae
United States | 394 | 319 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Mitochondrial Full Genome Analysis Mayo Clinic Laboratories Mayo Clinic
United States | 29 | 37 | - C Sequence analysis of the entire coding region
|
PGmito - Mitochondrial Genome Sequencing PreventionGenetics, part of Exact Sciences
United States | 16 | 38 | - C Sequence analysis of the entire coding region
|
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences
United States | 292 | 253 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial; LS (Leigh syndrome) (BCS1L 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
|
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFA2 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
|
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFA9 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
|
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFS4 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
|
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFAF6 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
|
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFA9 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
|
Leigh syndrome due to cytochrome c oxidase deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (COX15 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
|
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Isolated complex I deficiency) (NDUFS3 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
|
Leigh syndrome due to mitochondrial COX4 deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (COX10 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
|
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFA10 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
|
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial; LS (Leigh syndrome) (BCS1L 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
|
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (SDHA 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
|
Leigh syndrome due to cytochrome c oxidase deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (COX15 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
|
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFS8 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
|
