Clinical and research tests for C1303073 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Nicolaides-baraitser syndrome testing (SMARCA2) Genetic Services Laboratory University of Chicago United States	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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nicolaides-Baraitser syndrome, 601358, Autosomal dominant; NCBRS (Intellectual disability-sparse hair-brachydactyly syndrome) (SMARCA2 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
Nicolaides-Baraitser syndrome, 601358, Autosomal dominant; NCBRS (Intellectual disability-sparse hair-brachydactyly syndrome) (SMARCA2 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Coffin-Siris Syndrome Panel PreventionGenetics United States	12	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nicolaides-Baraitser Syndrome (SMARCA2 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States	182	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coffin-Siris Syndrome NGS Panel Fulgent Genetics United States	82	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nicolaides-Baraitser syndrome Institute of Human Genetics Cologne University Germany	1	1	C Sequence analysis of the entire coding region
Nicolaides-Baraitser Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Coffin-Siris Syndrome NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	22	22	C Sequence analysis of the entire coding region
NICOLAIDES-BARAITSER SYNDROME Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Nicolaides-Baraitser Syndrome , Sequencing SMARCA2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Epilepsy Asper Biogene Asper Biogene LLC Estonia	210	204	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.