Clinical and research tests for C0406727 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Short Rib Skeletal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	24	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TCTN3 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	C Sequence analysis of the entire coding region
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	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
Joubert syndrome panel. 36-gene NGS panel. Genologica Medica Spain	61	33	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
Orofaciodigital syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	8	8	C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	507	135	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
Ataxia NGS Panel Fulgent Genetics United States	535	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TCTN3 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	22	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TCTN3 Single Gene Fulgent Genetics United States	85	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Ciliopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	144	102	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Joubert and Meckel-Gruber Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	43	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 41

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.