Clinical and research tests for 608393 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 45

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CENPJ-Related Disorders via the CENPJ 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
Primary Microcephaly, Autosomal Recessive, Panel PreventionGenetics, part of Exact Sciences United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain	63	48	C Sequence analysis of the entire coding region
Seckel syndrome panel. 6-gene NGS panel. Genologica Medica Spain	10	6	C Sequence analysis of the entire coding region
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain	33	24	C Sequence analysis of the entire coding region
Microcephaly Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	67	48	C Sequence analysis of the entire coding region
Microcephaly, primary autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	25	25	C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis 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
Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States	182	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
3-M Syndrome NGS Panel Fulgent Genetics United States	21	16	D Deletion/duplication analysis 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
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) Laboratorio de Genetica Clinica SL Spain	13	13	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 and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany	38	36	C Sequence analysis of the entire coding region
Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany	38	36	C Sequence analysis of the entire coding region
CENPJ Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 45

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.