Clinical and research tests for 3861 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KRT14 Gene Dermatopathia pigmentosa reticularis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
Epidermolysis bullosa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa NGS panel HNL Genomics Connective Tissue Gene Tests United States	13	23	C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	13	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Autosomal dominant (Epidermolysis bullosa simplex, Dowling-Meara type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Autosomal dominant (Epidermolysis bullosa simplex, Dowling-Meara type) (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, Dowling-Meara type, 131760, Autosomal dominant (Epidermolysis bullosa simplex, Dowling-Meara type) (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, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa simplex, recessive 1, 601001, Autosomal recessive (KRT14-related 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, Dowling-Meara type, 131760, Autosomal dominant (Epidermolysis bullosa simplex, Dowling-Meara type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa simplex, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (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) (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, Koebner type, 131900, Autosomal dominant (Generalized epidermolysis bullosa simplex, non-Dowling-Meara type) (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

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.