Clinical and research tests for 3694 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ITGB6 Gene Amelogenesis imperfecta type 1H NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ITGB6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	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 IH, 616221, Autosomal recessive; AI1H (Amelogenesis imperfecta) (ITGB6 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
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 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 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 and Dentinogenesis Imperfecta Panel PreventionGenetics, part of Exact Sciences United States	28	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amelogenesis imperfecta and dentinogenesis imperfecta panel. NGS panel of 15 genes. Genologica Medica Spain	22	14	C Sequence analysis of the entire coding region
Amelogenesis imperfecta Bioarray Spain	1	21	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
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly Xpanded Panel GeneDx United States	1	877	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amelogenesis imperfecta: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	18	17	C Sequence analysis of the entire coding region
Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel Blueprint Genetics Finland	9	15	D Deletion/duplication analysis 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.