Clinical and research tests for C0265202 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcephaly Panel Genetic Services Laboratory University of Chicago United States	72	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primordial Dwarfism Panel Genetic Services Laboratory University of Chicago United States	18	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	23	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via the ATR Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Microcephaly Xpanded Panel GeneDx United States	1	877	D Deletion/duplication analysis C Sequence analysis of the entire coding region
3-M Syndrome NGS Panel Fulgent Genetics United States	21	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SECKEL SYNDROME Laboratorio de Genetica Clinica SL Spain	7	7	C Sequence analysis of the entire coding region
Comprehensive Short Stature Syndrome Panel Blueprint Genetics Finland	4	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Seckel Syndrome Panel Blueprint Genetics Finland	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
3-M Syndrome / Primordial Dwarfism Panel Blueprint Genetics Finland	8	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NIN Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Selected Genetic Syndromes with skeletal involvement Panel CeGaT GmbH Germany	36	42	C Sequence analysis of the entire coding region
Microcephaly and Pontocerebellar Hypoplasia Panel CeGaT GmbH Germany	38	36	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.