Clinical and research tests for C1861732 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 21

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ITPR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	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
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
Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	87	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pure Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	31	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spinocerebellar ataxia 29, congenital nonprogressive, 117360, Autosomal dominant (Spinocerebellar ataxia type 29) (ITPR1 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
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 Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States	130	81	D Deletion/duplication analysis
ITPR1 Institute for Human Genetics University Medical Center Freiburg Germany	3	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
Spinocerebellar ataxia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	37	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Reference Laboratory Genetics Spain	37	34	C Sequence analysis of the entire coding region
Ataxia, Complete Dominant Evaluation Athena Diagnostics Inc United States	31	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, Supplemental Dominant Evaluation Athena Diagnostics Inc United States	22	16	C Sequence analysis of the entire coding region
Ataxia, Comprehensive Evaluation Athena Diagnostics Inc United States	44	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, autosomal dominant and X-linked Panel CeGaT GmbH Germany	12	34	C Sequence analysis of the entire coding region

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