Clinical and research tests for C0265259 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Polydactyly and Syndactyly Panel PreventionGenetics United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Popliteal pterygium syndrome 1, 119500, Autosomal dominant; PPS (Autosomal dominant popliteal pterygium syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Popliteal pterygium syndrome 1, 119500, Autosomal dominant; PPS (Autosomal dominant popliteal pterygium syndrome) (IRF6 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
Popliteal pterygium syndrome 1, 119500, Autosomal dominant; PPS (Autosomal dominant popliteal pterygium syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Popliteal pterygium syndrome 1, 119500, Autosomal dominant; PPS (Autosomal dominant popliteal pterygium syndrome) (IRF6 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
Van der Woude Syndrome Panel PreventionGenetics United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ambiguous Genitalia Panel PreventionGenetics United States	128	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Popliteal pterygium syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Popliteal pterygium syndrome NGS test HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Popliteal pterygium syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) Panel PreventionGenetics United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
IRF6-Related Disorders via the IRF6 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Popliteal Pterygium Syndrome (IRF6 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft Palate/Lip NGS Panel Fulgent Genetics United States	127	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kabuki Syndrome NGS Panel Fulgent Genetics United States	17	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Van der Woude Syndrome NGS Panel Fulgent Genetics United States	12	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IRF6-Related Disorders: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	1	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.