Clinical and research tests for C3809753 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HERC2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
Chromosomal SNP Microarry Cytogenetics Laboratory SUNY Upstate Medical University United States	8	23	H Detection of homozygosity
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
Mental retardation, autosomal recessive 38, 615516, Autosomal recessive; MRT38 (Developmental delay with autism spectrum disorder and gait instability) (HERC2 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
Mental retardation, autosomal recessive 38, 615516, Autosomal recessive; MRT38 (Developmental delay with autism spectrum disorder and gait instability) (HERC2 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
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
Rett syndrome and other related syndromes. 34-gene NGS panel. Genologica Medica Spain	58	34	C Sequence analysis of the entire coding region
Mental retardation, autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	48	48	C Sequence analysis of the entire coding region
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Reference Laboratory Genetics Spain	32	32	C Sequence analysis of the entire coding region
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Reference Laboratory Genetics Spain	94	91	C Sequence analysis of the entire coding region
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Reference Laboratory Genetics Spain	17	18	C Sequence analysis of the entire coding region
HERC2 Defect Syndrome Targeted Testing DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	T Targeted variant analysis
HERC2 Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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