MVL Vision Panel Molecular Vision Laboratory
United States | 1358 | 1028 | - C Sequence analysis of the entire coding region
|
Epilepsy Panel Centogene US, LLC - The Rare Disease Company
United States | 734 | 744 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
RRM2B - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company
United States | 3 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
RRM2B - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 3 | 1 | - 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
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae
United States | 971 | 680 | - D Deletion/duplication analysis
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae
United States | 202 | 128 | - D Deletion/duplication analysis
|
Invitae Nuclear Mitochondrial Disorders Panel Invitae
United States | 394 | 319 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics
United States | 290 | 251 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Autosomal recessive (Mitochondrial DNA depletion syndrome, encephalomyopathic form) (MLPA) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Autosomal recessive (Mitochondrial DNA depletion syndrome, encephalomyopathic form) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Autosomal recessive (Mitochondrial DNA depletion syndrome, encephalomyopathic form) (RRM2B gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Autosomal recessive (Mitochondrial neurogastrointestinal encephalomyopathy) (RRM2B gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Autosomal recessive (Mitochondrial neurogastrointestinal encephalomyopathy) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Autosomal recessive (Mitochondrial DNA depletion syndrome, encephalomyopathic form) (RRM2B gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Autosomal recessive (Mitochondrial neurogastrointestinal encephalomyopathy) (MLPA) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Autosomal recessive (Mitochondrial neurogastrointestinal encephalomyopathy) (RRM2B gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre
Turkey | 1 | 1 | - C Sequence analysis of the entire coding region
|
RRM2B - Mitochondrial DNA depletion syndrome Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands | 2 | 1 | - C Sequence analysis of the entire coding region
|
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel PreventionGenetics
United States | 30 | 13 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics
United States | 201 | 211 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
