Clinical and research tests for 131760 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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, 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, Dowling-Meara type, 131760, Autosomal dominant; EBSDM (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, Dowling-Meara type, 131760, Autosomal dominant; EBSDM (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; EBSDM (Epidermolysis bullosa simplex, Dowling-Meara type) (KRT5 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; EBSDM (Epidermolysis bullosa simplex, Dowling-Meara type) (KRT5 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
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 Labcorp Genetics (formerly Invitae) LabCorp 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
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	124	69	D Deletion/duplication analysis 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 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 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
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
IDS Comprehensive - Sequence & Deletion/Duplication w/ Inversion Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epidermolysis Bullosa Simplex (EBS) via the KRT14 Gene PreventionGenetics, part of Exact Sciences United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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