MVL Vision Panel Molecular Vision Laboratory
United States | 1358 | 1028 | - C Sequence analysis of the entire coding region
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CentoScreen Centogene AG - the Rare Disease Company
Germany | 316 | 314 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
COL7A1 - 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
|
MMP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company
Germany | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Carrier Screening Guidelines-Based Panel Ambry Genetics
United States | 199 | 165 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
CentoICU Panel Centogene AG - the Rare Disease Company
Germany | 829 | 848 | - C Sequence analysis of the entire coding region
|
CentoSkin Panel Centogene AG - the Rare Disease Company
Germany | 157 | 151 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (COL7A1 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 dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (COL7A1 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 dystrophica, autosomal recessive, modifier of, 226600, Autosomal recessive; RDEB (Recessive dystrophic epidermolysis bullosa inversa) (MMP1 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 dystrophica, autosomal recessive, modifier of, 226600, Autosomal recessive; RDEB (Recessive dystrophic epidermolysis bullosa inversa) (MMP1 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 dystrophica inversa, 226600, Autosomal recessive (Recessive dystrophic epidermolysis bullosa inversa) (COL7A1 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 dystrophica inversa, 226600, Autosomal recessive (Recessive dystrophic epidermolysis bullosa inversa) (COL7A1 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
|
Congenital Diarrhea and Enteropathies Panel PreventionGenetics
United States | 241 | 157 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Invitae Broad Carrier Screen without X-linked Disorders Invitae
United States | 195 | 98 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Broad Carrier Screen Invitae
United States | 224 | 112 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Comprehensive Carrier Screen Invitae
United States | 886 | 547 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Skin and Connective Tissue Disorders Panel PreventionGenetics
United States | 125 | 69 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Epidermolysis bullosa dystrophica, autosomal dominant & recessive Comprehensive test HNL Genomics Connective Tissue Gene Tests
United States | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Epidermolysis bullosa dystrophica, autosomal dominant & recessive Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests
United States | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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