Clinical and research tests for C3549447 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ATP1A2 - 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
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics 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
Alternating hemiplegia of childhood, 104290, Autosomal dominant; AHC1 (Alternating hemiplegia of childhood) (ATP1A2 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
Alternating hemiplegia of childhood, 104290, Autosomal dominant; AHC1 (Alternating hemiplegia of childhood) (ATP1A2 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
Invitae Periodic Paralysis Panel Invitae United States	18	6	D Deletion/duplication analysis
Invitae Epilepsy Panel Invitae United States	442	298	D Deletion/duplication analysis
Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood Panel PreventionGenetics United States	13	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ATP1A2 Institute for Human Genetics University Medical Center Freiburg Germany	4	1	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
ATP1A2 MLPA Duplication/Deletion Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	2	1	D Deletion/duplication analysis
MNG STAT Actionable Epilepsy (NextGen Sequencing Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	17	69	C Sequence analysis of the entire coding region
Familial Hemiplegic Migraine Asper Biogene Asper Biogene LLC Estonia	28	13	C Sequence analysis of the entire coding region
Epilepsy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	132	83	C Sequence analysis of the entire coding region
Alternating hemiplegia of childhood: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
ATP1A2 Full Gene Sequencing Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	2	1	C Sequence analysis of the entire coding region
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain	8	6	C Sequence analysis of the entire coding region
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Reference Laboratory Genetics Spain	40	34	C Sequence analysis of the entire coding region
EPILEPSY HEREDITARY PANEL GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	41	37	C Sequence analysis of the entire coding region
Hereditary Ataxia Asper Biogene Asper Biogene LLC Estonia	180	139	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.