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
|
Arrhythmogenic right ventricular dysplasia 8, 607450, Autosomal dominant (Familial isolated arrhythmogenic right ventricular dysplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Arrhythmogenic right ventricular dysplasia 8, 607450, Autosomal dominant (Familial isolated arrhythmogenic right ventricular dysplasia) (DSP 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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Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (DSP 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
|
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (DSP 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
|
Epidermolysis bullosa, lethal acantholytic, 609638, Autosomal recessive; EBLA (Lethal acantholytic epidermolysis bullosa) (DSP 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, lethal acantholytic, 609638, Autosomal recessive; EBLA (Lethal acantholytic epidermolysis bullosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, lethal acantholytic, 609638, Autosomal recessive; EBLA (Lethal acantholytic epidermolysis bullosa) (DSP 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
|
Epidermolysis bullosa, lethal acantholytic, 609638, Autosomal recessive; EBLA (Lethal acantholytic epidermolysis bullosa) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Keratosis palmoplantaris striata II, 612908; PPKS2 (Keratosis palmoplantaris striata) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Keratosis palmoplantaris striata II, 612908; PPKS2 (Keratosis palmoplantaris striata) (DSP 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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Skin fragility-woolly hair syndrome, 607655, Autosomal recessive; SFWHS (Skin fragility-woolly hair-palmoplantar keratoderma syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Skin fragility-woolly hair syndrome, 607655, Autosomal recessive; SFWHS (Skin fragility-woolly hair-palmoplantar keratoderma syndrome) (DSP 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
|
Skin fragility-woolly hair syndrome, 607655, Autosomal recessive; SFWHS (Skin fragility-woolly hair-palmoplantar keratoderma syndrome) (DSP 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
|
Skin fragility-woolly hair syndrome, 607655, Autosomal recessive; SFWHS (Skin fragility-woolly hair-palmoplantar keratoderma syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821, Autosomal dominant; DCWHKTA (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (DSP 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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