Clinical and research tests for C1839736 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HDAC8 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	3	1	C Sequence analysis of the entire coding region
LAS1L - 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
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Wilson-Turner syndrome, 309585, X-linked recessive; WTS (Wilson-Turner syndrome) (LAS1L 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
LAS1L-Related Disorders via the LAS1L 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
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
Cornelia de Lange Syndrome via the HDAC8 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Wilson-Turner syndrome (sequence analysis of HDAC8 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Wilson-Turner syndrome (sequence analysis of LAS1L gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
Mental retardation, X-linked syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	33	31	C Sequence analysis of the entire coding region
Facial Dysostosis and Related Disorders NGS Panel Fulgent Genetics United States	85	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region
PreSeek Non-invasive Prenatal Gene Sequencing Screen Baylor Genetics United States	49	30	C Sequence analysis of the entire coding region
HDAC8 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing HDAC8 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
HDAC8 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia De Lange Syndrome NGS Panel Fulgent Genetics United States	5	5	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.