Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc.
United States | 185 | 145 | - D Deletion/duplication analysis
- I Microsatellite instability testing (MSI)
- X Mutation scanning of select exons
- T Targeted variant analysis
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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
|
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae
United States | 95 | 45 | - D Deletion/duplication analysis
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae
United States | 755 | 562 | - D Deletion/duplication analysis
|
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) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Epidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
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) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
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
|
Epidermolysis bullosa dystrophica inversa, 226600, Autosomal recessive (Recessive dystrophic epidermolysis bullosa inversa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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