Early Onset IBD Gene Panel
Mayo Clinic Laboratories, Mayo Clinic
United States 163 110 C Sequence analysis of the entire coding regionCarrier Screening - Comprehensive Panel (145 Genes)
Genesys Diagnostics, Genesys Diagnostics, Inc.
United States 185 145 D Deletion/duplication analysisI Microsatellite instability testing (MSI)X Mutation scanning of select exonsT Targeted variant analysisCOL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic DNA Test
1 1 S Mutation scanning of the entire coding regionDystrophic Epidermolysis Bullosa
Myriad Genetics, Inc.
United States 1 1 C Sequence analysis of the entire coding regionInvitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel
Labcorp Genetics (formerly Invitae), LabCorp
United States 95 45 D Deletion/duplication analysisInvitae Inborn Errors of Immunity and Cytopenias Panel
Labcorp Genetics (formerly Invitae), LabCorp
United States 754 562 D Deletion/duplication analysisEpidermolysis bullosa Comprehensive panel
HNL Genomics Connective Tissue Gene Tests
United States 13 23 D Deletion/duplication analysisC Sequence analysis of the entire coding regionT Targeted variant analysisEpidermolysis bullosa NGS panel
HNL Genomics Connective Tissue Gene Tests
United States 13 23 C Sequence analysis of the entire coding regionT Targeted variant analysisEpidermolysis bullosa Deletion / Duplication panel
HNL Genomics Connective Tissue Gene Tests
United States 13 23 D Deletion/duplication analysisC Sequence analysis of the entire coding regionEpidermolysis bullosa dystrophica, AD, 131750, Autosomal dominant (Generalized dominant dystrophic epidermolysis bullosa) (COL7A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 C Sequence analysis of the entire coding regionEpidermolysis bullosa dystrophica, AD, 131750, Autosomal dominant (Generalized dominant dystrophic epidermolysis bullosa) (MLPA)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 D Deletion/duplication analysisEpidermolysis bullosa pruriginosa, 604129, Autosomal recessive, Autosomal dominant (Dystrophic epidermolysis bullosa pruriginosa) (COL7A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 C Sequence analysis of the entire coding regionEpidermolysis bullosa pruriginosa, 604129, Autosomal recessive, Autosomal dominant (Dystrophic epidermolysis bullosa pruriginosa) (Prenatal) (MLPA)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 D Deletion/duplication analysisEpidermolysis bullosa pruriginosa, 604129, Autosomal recessive, Autosomal dominant (Dystrophic epidermolysis bullosa pruriginosa) (MLPA)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 D Deletion/duplication analysisEpidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (COL7A1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 C Sequence analysis of the entire coding regionEpidermolysis bullosa dystrophica, AD, 131750, Autosomal dominant (Generalized dominant dystrophic epidermolysis bullosa) (Prenatal) (MLPA)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 D Deletion/duplication analysisEpidermolysis bullosa pruriginosa, 604129, Autosomal recessive, Autosomal dominant (Dystrophic epidermolysis bullosa pruriginosa) (COL7A1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 C Sequence analysis of the entire coding regionEpidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (Prenatal) (MLPA)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 D Deletion/duplication analysisEpidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (MLPA)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 D Deletion/duplication analysisEpidermolysis bullosa dystrophica, AR, 226600, Autosomal recessive (Severe generalized recessive dystrophic epidermolysis bullosa) (COL7A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)
Intergen Genetics and Rare Diseases Diagnosis Center
Turkey 1 1 C Sequence analysis of the entire coding region