Clinical and research tests for C4551851 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cornelia de Lange syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	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
Cornelia de Lange syndrome 1, 122470, Autosomal dominant; CDLS1 (Cornelia de Lange syndrome) (NIPBL 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
Cornelia de Lange syndrome 1, 122470, Autosomal dominant; CDLS1 (Cornelia de Lange syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cornelia de Lange syndrome 1, 122470, Autosomal dominant; CDLS1 (Cornelia de Lange syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cornelia de Lange syndrome 1, 122470, Autosomal dominant; CDLS1 (Cornelia de Lange syndrome) (NIPBL 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
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	43	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cornelia de Lange Syndrome and Related Disorders Panel Invitae United States	44	31	D Deletion/duplication analysis
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States	82	77	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Facial Dysostosis Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	33	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange Syndrome Panel PreventionGenetics, part of Exact Sciences United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cornelia de Lange Syndrome via the NIPBL 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

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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.