Clinical and research tests for C1864652 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 52

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Treacher Collins syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Treacher Collins syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Treacher Collins syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	9	9	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
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel PreventionGenetics, part of Exact Sciences United States	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 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
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Treacher Collins Syndrome and Mandibulofacial Dysostosis Gene Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	13	10	C Sequence analysis of the entire coding region
Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain	113	62	C Sequence analysis of the entire coding region
Treacher-Collins syndrome panel Genologica Medica Spain	6	6	C Sequence analysis of the entire coding region
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Panel of facial dysostosis and related disorders. NGS panel of 26 genes. Genologica Medica Spain	35	26	C Sequence analysis of the entire coding region
Gastrointestinal atresia panel. NGS panel of 13 genes. Genologica Medica Spain	19	13	C Sequence analysis of the entire coding region
Treacher-Collins syndrome panel. 7-gene NGS panel. Genologica Medica Spain	6	6	C Sequence analysis of the entire coding region
EFTUD2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Craniofacial panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	48	48	C Sequence analysis of the entire coding region
Facial Dysostosis and Related Disorders NGS Panel Fulgent Genetics United States	85	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mandibulofacial Dysostosis With Microcephaly (EFTUD2 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mandibulofacial Dysostosis with Microcephaly: gene deletion/duplication CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	D Deletion/duplication analysis

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Results: 21 to 40 of 52

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.