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 Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel Invitae
United States | 81 | 57 | - D Deletion/duplication analysis
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Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae
United States | 95 | 45 | - D Deletion/duplication analysis
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Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences
United States | 297 | 180 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Epidermolysis bullosa of hands and feet, 131800, Autosomal dominant (Localized epidermolysis bullosa simplex) (ITGB4 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 of hands and feet, 131800, Autosomal dominant (Localized epidermolysis bullosa simplex) (ITGB4 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 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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Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Autosomal dominant (Localized epidermolysis bullosa simplex) (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
|
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Autosomal dominant (Localized 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
|
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (Localized epidermolysis bullosa simplex) (ITGB4 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, junctional, with pyloric atresia, 226730, Autosomal recessive (Junctional epidermolysis bullosa-pyloric atresia syndrome) (ITGB4 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) (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
|
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
|
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
|
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
|
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
|
Invitae Progressive Renal Disease Panel Invitae
United States | 310 | 195 | - D Deletion/duplication analysis
|
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States | 527 | 338 | - C Sequence analysis of the entire coding region
|
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences
United States | 125 | 69 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae
United States | 148 | 73 | - D Deletion/duplication analysis
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