Clinical and research tests for C0270972 - 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
NIPBL mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	1	C Sequence analysis of the entire coding region
SMC1A mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	1	C Sequence analysis of the entire coding region
EPISign Whole Genome Methylation Assay Molecular Genetics Laboratory London Health Sciences Centre Canada	19	1	M Methylation analysis
Comprehensive Congenital Heart Disease Panel PreventionGenetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Custom Panel (Multiple Malformations/Anomalies Syndromes) PreventionGenetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Disorders and Joint Problems Panel PreventionGenetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
EpiSign Variant Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	34	1	M Methylation analysis
Rubinstein-Taybi Syndrome Panel Genetic Services Laboratory University of Chicago United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiSign Complete Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	34	1	M Methylation analysis
Limb Abnormalities and Reduction Defects Panel GeneDx United States	24	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prenatal Limb Abnormalities Panel GeneDx United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal disorders - different panels Institute of Human Genetics Cologne University Germany	8	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia-de-Lange syndrome Institute of Human Genetics Cologne University Germany	2	1	D Deletion/duplication analysis
Limb Malformations Panel Blueprint Genetics Finland	4	45	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cornelia de Lange Syndrome Panel Blueprint Genetics Finland	1	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TAF6 Single Gene Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KMT2A Single Gene Fulgent Genetics United States	37	1	D Deletion/duplication analysis 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

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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.