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

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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	345	159	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
Migraine, familial hemiplegic, 3, 609634, Autosomal dominant; FHM3 (Familial or sporadic hemiplegic migraine) (SCN1A 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
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
Whole Exome Sequencing for Hemiplegic Migraine, Epilepsy, Ataxia, CADASIL/Small Vessel Disease Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology Australia	14	10	C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Next Generation Sequencing for FHM, EA1, EA2, SCA6, CADASIL, CARASIL, COL4A1/2, Fabry Disease, Small Vessel Disease, Epilepsy Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology Australia	18	12	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
SCN1A Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Generalized idiopathic and focal epilepsy panel. 34-gene NGS panel. Genologica Medica Spain	74	34	C Sequence analysis of the entire coding region
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain	197	128	C Sequence analysis of the entire coding region

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