Clinical and research tests for C1845053 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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, 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	161	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
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 Bioarray Spain	1	172	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
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region
AMELX Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amelogenesis imperfecta panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	10	8	C Sequence analysis of the entire coding region
Amelogenesis Imperfecta NGS Panel Fulgent Genetics United States	75	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amelogenesis Imperfecta, Type IE Dental Research Laboratory University of Michigan School of Dentistry United States	1	1	C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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.