Clinical and research tests for 150310 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LAMB3 Gene Amelogenesis imperfecta type 1A NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
LAMB3 Gene Epidermolysis bullosa, junctional, non-Herlitz type 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
LAMB3 - 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
Amelogenesis imperfecta, type IA, 104530, Autosomal dominant; AI1A (Amelogenesis imperfecta) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Amelogenesis imperfecta, type IA, 104530, Autosomal dominant; AI1A (Amelogenesis imperfecta) (LAMB3 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (LAMB3 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, junctional, Herlitz type, 226700, Autosomal recessive (Junctional epidermolysis bullosa, Herlitz type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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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.