Clinical and research tests for C1864987 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SCN1A - MLPA Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis
SCN1A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Familial Hemiplegic Migraine Panel Invitae United States	21	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Episodic Ataxia Panel PreventionGenetics, part of Exact Sciences United States	61	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Hemiplegic Migraine: gene sequence and deletion/duplication Ambry Genetics United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Migraine, familial hemiplegic, 3, 609634, Autosomal dominant; FHM3 (Familial or sporadic hemiplegic migraine) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood Panel PreventionGenetics, part of Exact Sciences United States	13	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hemiplegic Migraine Panel GeneDx United States	11	4	D Deletion/duplication analysis 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
Actionable Epilepsy NGS Panel Fulgent Genetics United States	78	23	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
Dravet Syndrome NGS Panel Fulgent Genetics United States	27	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine Athena Diagnostics United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 3

Results: 1 to 20 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.