KRT5 Gene Epidermolysis bullosa simplex NGS Genetic DNA Test DNA Labs India
India | 1 | 1 | - S Mutation scanning of the entire coding region
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KRT5 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 7 | 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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CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company
Germany | 406 | 414 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
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CentoSkin Panel Centogene AG - the Rare Disease Company
Germany | 157 | 151 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae
United States | 95 | 45 | - D Deletion/duplication analysis
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Epidermolysis bullosa Comprehensive panel HNL Genomics Connective Tissue Gene Tests
United States | 13 | 23 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Epidermolysis bullosa NGS panel HNL Genomics Connective Tissue Gene Tests
United States | 13 | 23 | - C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Epidermolysis bullosa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests
United States | 13 | 23 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1 (KRT14-related epidermolysis bullosa simplex) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (KRT5 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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EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1 (KRT14-related epidermolysis bullosa simplex) (KRT5 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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Epidermolysis bullosa simplex-MP, 131960, Autosomal dominant; EBSMP (Epidermolysis bullosa simplex with mottled pigmentation) (KRT5 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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Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Autosomal dominant (Localized epidermolysis bullosa simplex) (KRT5 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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Epidermylysis bullosa simplex-MCR, 609352 (Epidermolysis bullosa simplex with circinate migratory erythema) (KRT5 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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Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Epidermylysis bullosa simplex-MCR, 609352 (Epidermolysis bullosa simplex with circinate migratory erythema) (KRT5 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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