LAMB3 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 3 | 1 | - 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
|
Invitae Corneal Dystrophies Panel Invitae
United States | 65 | 33 | - 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, junctional, non-Herlitz type, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (LAMC2 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, generalized atrophic benign, 226650, Autosomal recessive (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, non-Herlitz type, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, non-Herlitz type, 226650, Autosomal recessive (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, localisata variant, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (COL17A1 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, localisata variant, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (COL17A1 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, junctional, non-Herlitz type, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, generalized atrophic benign, 226650, Autosomal recessive (LAMA3 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, junctional, non-Herlitz type, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (LAMB3 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, junctional, non-Herlitz type, 226650, Autosomal recessive (Localized junctional epidermolysis bullosa, non-Herlitz type) (COL17A1 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, junctional, non-Herlitz type, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (LAMC2 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, junctional, non-Herlitz type, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (LAMB3 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, generalized atrophic benign, 226650, Autosomal recessive (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa, junctional, non-Herlitz type, 226650, Autosomal recessive (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
|
Epidermolysis bullosa, junctional, non-Herlitz type, 226650, Autosomal recessive (Junctional epidermolysis bullosa, non-Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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