MVL Vision Panel Molecular Vision Laboratory
United States | 1358 | 1028 | - C Sequence analysis of the entire coding region
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NDUFS4 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CentoNeuro Panel Centogene AG - the Rare Disease Company
Germany | 1886 | 1858 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Epilepsy Panel Centogene AG - the Rare Disease Company
Germany | 734 | 744 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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CentoIEM Panel Centogene AG - the Rare Disease Company
Germany | 669 | 688 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company
Germany | 406 | 414 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company
Germany | 451 | 452 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company
Germany | 442 | 443 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 971 | 680 | - D Deletion/duplication analysis
|
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 394 | 319 | - 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 | 292 | 253 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFAF4 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
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFS6 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
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NUBPL 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
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NUBPL 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
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFAF3 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
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFV2 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
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFS6 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
|
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFV1 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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