Clinical and research tests for 265 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
AMELX Gene Amelogenesis imperfecta type 1E NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
AMELX - 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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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 1E, 301200, X-linked dominant; AI1E (Amelogenesis imperfecta) (AMELX 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
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	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 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 AMELX 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
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Amelogénesis imperfecta tipo IE (sequence analysis of AMELX gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
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

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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.