Clinical and research tests for C2676244 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Leukodystrophy, hypomyelinating, 6, 612438, Autosomal dominant; HLD6 (Hypomyelination with atrophy of basal ganglia and cerebellum) (TUBB4A 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
Leukodystrophy, hypomyelinating, 6, 612438, Autosomal dominant; HLD6 (Hypomyelination with atrophy of basal ganglia and cerebellum) (TUBB4A 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
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Dystonia Comprehensive Panel Invitae United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes. Genologica Medica Spain	96	74	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
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Dystonia and Parkinsonism Panel GeneDx United States	20	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TUBB4A Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Leukodystrophy, hypomyelinating: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	18	18	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegia NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	79	C Sequence analysis of the entire coding region
Leukodystrophy and Leukoencephalopathy Asper Biogene Asper Biogene LLC Estonia	47	39	C Sequence analysis of the entire coding region
Brain malformations Asper Biogene Asper Biogene LLC Estonia	318	252	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.