Clinical and research tests for 611295 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Glioma (MGMT gene promoter methylation analysis and frequent mutations in IDH1 and IDH2 genes) CGC Genetics Unilabs Portugal	1	3	D Deletion/duplication analysis
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
Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294, Autosomal dominant; EBSSH (KLHL24 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, generalized, with scarring and hair loss, 617294, Autosomal dominant; EBSSH (KLHL24 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 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
Pan Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	112	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypertrophic Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	67	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	224	202	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis bullosa (WES based NGS panel of 23 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	23	C Sequence analysis of the entire coding region
Cardiovascular panel _v.2.0 CGC Genetics Unilabs Portugal	1	264	C Sequence analysis of the entire coding region
Cardiomyopathy panel_v.2.0 CGC Genetics Unilabs Portugal	1	203	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Epidermolyisis Bullosa Panel Mendelics Brazil	1	25	C Sequence analysis of the entire coding region
General panel of metabolic myopathies Genologica Medica Spain	114	110	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons 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.