Clinical and research tests for 3909 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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
LAMA3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany	75	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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 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
Amelogenesis imperfecta and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amelogenesis imperfecta and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	16	C Sequence analysis of the entire coding region T Targeted variant analysis
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMA3 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, generalized atrophic benign, 226650, Autosomal recessive (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epidermolysis bullosa, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMA3 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

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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.