Epidermolysis bullosa simplex, recessive 1, 601001, Autosomal recessive (KRT14-related epidermolysis bullosa simplex) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Autosomal dominant (Localized epidermolysis bullosa simplex) (KRT14 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, recessive 1, 601001, Autosomal recessive (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, Weber-Cockayne type, 131800, Autosomal dominant (Localized epidermolysis bullosa simplex) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Autosomal dominant (Localized 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, recessive 1, 601001, Autosomal recessive (KRT14-related epidermolysis bullosa simplex) (KRT14 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, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (KRT14 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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Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (KRT14 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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Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (KRT14 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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Naegeli-Franceschetti-Jadassohn syndrome, 161000, Autosomal dominant; NFJS (Naegeli-Franceschetti-Jadassohn syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Dermatopathia pigmentosa reticularis, 125595, Autosomal dominant; DPR (Dermatopathia pigmentosa reticularis) (KRT14 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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Dermatopathia pigmentosa reticularis, 125595, Autosomal dominant; DPR (Dermatopathia pigmentosa reticularis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences
United States | 124 | 69 | - D Deletion/duplication analysis
- 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 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 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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Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 148 | 73 | - D Deletion/duplication analysis
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Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene PreventionGenetics, part of Exact Sciences
United States | 6 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Epidermolysis Bullosa and Related Disorders Panel PreventionGenetics, part of Exact Sciences
United States | 31 | 18 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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