Clinical and research tests for 286077 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FAM83H Gene Amelogenesis imperfecta type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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 III, 130900, Autosomal dominant (Amelogenesis imperfecta) (FAM83H 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
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 via the FAM83H Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amelogenesis imperfecta type III (sequence analysis of FAM83H gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
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
Amelogenesis Bioarray Spain	1	172	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
Amelogenesis imperfecta: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	18	17	C Sequence analysis of the entire coding region
Monogenic Kidney Stone Panel Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States	21	170	C Sequence analysis of the entire coding region
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland	2	308	D Deletion/duplication analysis 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.