Clinical and research tests for C2750798 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lissencephaly Panel PreventionGenetics, part of Exact Sciences United States	29	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polymicrogyria with optic nerve hypoplasia, 613180, Autosomal recessive (Polymicrogyria with optic nerve hypoplasia) (TUBA8 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
Polymicrogyria with optic nerve hypoplasia, 613180, Autosomal recessive (Polymicrogyria with optic nerve hypoplasia) (TUBA8 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
Brain Malformation Panel PreventionGenetics, part of Exact Sciences United States	79	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States	46	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Polymicrogyria with optic nerve hypoplasia (sequence analysis of TUBA8 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	111	56	C Sequence analysis of the entire coding region
Cortical dysplasia, complex, with other brain malformations: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	9	9	C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States	210	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Reference Laboratory Genetics Spain	41	38	C Sequence analysis of the entire coding region
Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes Reference Laboratory Genetics Spain	11	10	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Athena Diagnostics United States	43	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly Asper Biogene Asper Biogene LLC Estonia	111	96	C Sequence analysis of the entire coding region
Single gene testing TUBA8 CeGaT GmbH Germany	1	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.