Clinical and research tests for C1837213 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
IRF6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Orofacial cleft 6, 608864, Isolated cases; OFC6 (Cleft lip/palate) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Orofacial cleft 6, 608864, Isolated cases; OFC6 (Cleft lip/palate) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Orofacial cleft 6, 608864, Isolated cases; OFC6 (Cleft lip/palate) (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
Orofacial cleft 6, 608864, Isolated cases; OFC6 (Cleft lip/palate) (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, part of Exact Sciences 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, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
IRF6 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel. Genologica Medica Spain	49	16	C Sequence analysis of the entire coding region
Kabuki syndrome panel. 7-gene NGS panel. Genologica Medica Spain	16	7	C Sequence analysis of the entire coding region
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain	95	49	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Orofacial cleft: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	8	7	C Sequence analysis of the entire coding region
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
Single gene testing IRF6 CeGaT GmbH Germany	3	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.