Clinical and research tests for C0265211 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Marshall-smith syndrome testing (NFIX) Genetic Services Laboratory University of Chicago United States	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
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Invitae Overgrowth Syndromes Panel Invitae United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Marshall-Smith syndrome, 602535, Autosomal dominant; MRSHSS (Marshall-Smith syndrome) (NFIX 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
Marshall-Smith syndrome, 602535, Autosomal dominant; MRSHSS (Marshall-Smith syndrome) (NFIX 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
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Sotos syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Sotos syndrome and related disorders Deletion/Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sotos syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Overgrowth syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	12	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Sotos syndrome panel. Panel NGS genes: APC2, NFIX, NSD1. Genologica Medica Spain	5	3	C Sequence analysis of the entire coding region
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	C Sequence analysis of the entire coding region
Sotos syndrome panel Genologica Medica Spain	5	3	C Sequence analysis of the entire coding region
Macrocephaly/Overgrowth Syndrome NGS Panel Fulgent Genetics United States	100	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes Reference Laboratory Genetics Spain	20	16	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.