Clinical and research tests for C1858991 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
EIF2B1 - 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
EIF2B2 - 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
EIF2B3 - 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
EIF2B4 - 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
EIF2B5 - 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
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 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
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Leukoencephalopathy with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B2 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
Leukoencephalopathy with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B2 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
Leukoencephaly with vanishing white matter, 603896, Autosomal recessive; VWM (Late infantile CACH syndrome) (EIF2B4 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

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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.