Clinical and research tests for C0268548 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Urea Cycle Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	13	11	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene US, LLC - The Rare Disease Company United States	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene US, LLC - The Rare Disease Company United States	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene US, LLC - The Rare Disease Company United States	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene US, LLC - The Rare Disease Company United States	829	848	C Sequence analysis of the entire coding region
CentoIEM Panel Centogene US, LLC - The Rare Disease Company United States	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene US, LLC - The Rare Disease Company United States	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte 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
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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	646	420	D Deletion/duplication analysis
Hyperammonemia Panel PreventionGenetics United States	66	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.

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Results: 1 to 20 of 98

Results: 1 to 20 of 98