Leukoencephalopathy with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B2 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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Leukoencephalopathy with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B2 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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Leukoencephaly with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B4 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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Leukoencephalopathy with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B5 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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Leukoencephaly with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B4 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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Leukoencephalopathy with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B5 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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Ovarioleukodystrophy, 603896, Autosomal recessive (CACH syndrome) (EIF2B5 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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Ovarioleukodystrophy, 603896, Autosomal recessive (Ovarioleukodystrophy) (EIF2B4 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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Ovarioleukodystrophy, 603896, Autosomal recessive (Ovarioleukodystrophy) (EIF2B2 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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Ovarioleukodystrophy, 603896, Autosomal recessive (Ovarioleukodystrophy) (EIF2B4 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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Ovarioleukodystrophy, 603896, Autosomal recessive (Ovarioleukodystrophy) (EIF2B2 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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Ovarioleukodystrophy, 603896, Autosomal recessive (CACH syndrome) (EIF2B5 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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NEUROFIBROMATOSIS/ SCHWANNOMATOSIS EXOME PANEL Laboratorio de Genetica Clinica SL
Spain | 1 | 12 | - E Sequence analysis of select exons
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EIF2B1 - 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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EIF2B2 - 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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EIF2B3 - 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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EIF2B4 - 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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EIF2B5 - 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
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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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