Clinical and research tests for C1832884 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CACNA1A - repeat expansion analysis Centogene AG - the Rare Disease Company Germany	4	1	T Targeted variant analysis
CACNA1A - 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 Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
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
Episodic Ataxia Panel PreventionGenetics 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
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
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, Autosomal dominant; FHM1 (Spinocerebellar ataxia type 6) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, Autosomal dominant; FHM1 (Spinocerebellar ataxia type 6) (CACNA1A 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
Migraine, familial hemiplegic, 1, 141500, Autosomal dominant (Familial or sporadic hemiplegic migraine) (CACNA1A 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
Migraine, familial hemiplegic, 1, 141500, Autosomal dominant (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 United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Wole Exome Sequencing for Hemiplegic Migraine, Epilepsy, Ataxia, CADASIL/Small Vessel Disease Genomics Research Centre Queensland University of Technology Australia	12	4	C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Invitae United States	442	298	D Deletion/duplication analysis
Next Generation Sequencing for FHM, EA2, SCA6, CADASIL, Epilepsy Genomics Research Centre Queensland University of Technology Australia	9	4	C Sequence analysis of the entire coding region
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

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