Clinical and research tests for 3476 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
IGBP1 - 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
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
Intellectual Disability exome Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472, X-linked recessive (Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome) (IGBP1 gene) (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472, X-linked recessive (Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome) (IGBP1 gene) (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1293	C Sequence analysis of the entire coding region
X-linked Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	104	C Sequence analysis of the entire coding region
Microphthalmia, Anophthalmia and Coloboma Panel CGC Genetics Unilabs Portugal	1	91	C Sequence analysis of the entire coding region
Corpus callosum agenesis of with mental retardation, ocular coloboma and micrognathia (sequence analysis of IGBP1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
X-LINKED INTELLECTUAL DISABILITY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	143	E Sequence analysis of select exons
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region

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