Clinical and research tests for C4317295 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Intellectual Disability Panel Centogene US, LLC - The Rare Disease Company United States	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ALG13 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ALG13 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	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
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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	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
Epileptic encephalopathy, early infantile, 36, 300884, X-linked dominant; EIEE36 (ALG13-CDG) (ALG13 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Epileptic encephalopathy, early infantile, 36, 300884, X-linked dominant; EIEE36 (ALG13-CDG) (ALG13 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Congenital disorder of glycosylation, type Is, 300884, X-linked dominant (ALG13-CDG) (ALG13 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Congenital disorder of glycosylation, type Is, 300884, X-linked dominant (ALG13-CDG) (ALG13 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
ALG13 - Congenital disorder of glycosylation type Is Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region

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