Clinical and research tests for C0220767 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Facial Dysostosis Panel Genetic Services Laboratory University of Chicago United States	14	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
EFNB1 - 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
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States	44	28	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniofrontonasal dysplasia, 304110, X-linked dominant; CFNS (Craniofrontonasal dysplasia) (EFNB1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Craniofrontonasal dysplasia, 304110, X-linked dominant; CFNS (Craniofrontonasal dysplasia) (EFNB1 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Opitz G/BBB Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	5	C Sequence analysis of the entire coding region T Targeted variant 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.