Clinical and research tests for 1491 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
BEAN1 Gene Spinocerebellar ataxia type 31, autosomal dominant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CTH Gene Cystathioninuria NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CTH - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Homocysteine, total plasma, elevated (CTH 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
Cystathioninuria, 219500, Autosomal recessive (Cystathioninuria) (CTH 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
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
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Cystathioninuria via the CTH Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Cystationinuria (sequencing analysis CTH gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes. Genologica Medica Spain	53	53	C Sequence analysis of the entire coding region
Cystathioninuria: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	19	560	C Sequence analysis of the entire coding region
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Blueprint Genetics Finland	6	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism Panel Blueprint Genetics Finland	14	434	D Deletion/duplication analysis 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.