Clinical and research tests for C2675211 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC1A3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	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 Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Familial Hemiplegic Migraine Panel Labcorp Genetics (formerly Invitae) LabCorp 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
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
Episodic ataxia, type 6, 612656, Autosomal dominant; EA6 (Episodic ataxia type 6) (SLC1A3 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
Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 16 loci) Variantyx, Inc. United States	52	53	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Episodic ataxia type 6 (EA6, sequence analysis of SLC1A3 gene) CGC Genetics Unilabs Portugal	1	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
Migraine panel. NGS panel of 10 genes. Genologica Medica Spain	30	10	C Sequence analysis of the entire coding region
Episodic ataxia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
GABA Metabolism Deficiency NGS Panel Fulgent Genetics United States	24	30	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

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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.