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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NHS Gene Cataract, X-linked NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NHS mutation analysis Genetics and Molecular Pathology SA Pathology Australia	2	1	E Sequence analysis of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	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
Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States	73	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract 40, X-linked, 302200, X-linked; CTRCT40 (Early-onset non-syndromic cataract) (NHS 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
Nance-Horan syndrome, 302350, X-linked dominant; NHS (Nance-Horan syndrome) (NHS 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
Nance-Horan syndrome, 302350, X-linked dominant; NHS (Nance-Horan syndrome) (NHS 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
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
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract Amplexa Genetics Amplexa Genetics A/S Denmark	1	47	S Mutation scanning of the entire coding region
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
Congenital Cataracts Panel PreventionGenetics, part of Exact Sciences United States	44	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.