Clinical and research tests for C3150874 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 51

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WDR35 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain	60	23	C Sequence analysis of the entire coding region
Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain	152	97	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain	83	27	C Sequence analysis of the entire coding region
Congenital liver fibrosis panel. NGS panel of 52 genes. Genologica Medica Spain	89	50	C Sequence analysis of the entire coding region
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel. 16-gene NGS panel. Genologica Medica Spain	24	16	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
Ciliopathies Asper Biogene Asper Biogene LLC Estonia	166	120	C Sequence analysis of the entire coding region
Craniosynostosis panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	20	20	C Sequence analysis of the entire coding region
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
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel Invitae United States	22	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniofacial Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	47	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	26	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qGenEx Craniofacial Anomalies Quantitative Genomic Medicine Laboratories, SL Spain	135	136	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 51

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.