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 Netherlands	3	1	C Sequence analysis of the entire coding region
NIPBL mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	C Sequence analysis of the entire coding region
SMC1A mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center 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
PGmax™ - Comprehensive Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences 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, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PGmax™ - Skeletal Disorders and Joint Problems Panel PreventionGenetics, part of Exact Sciences 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
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
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
Cornelia de Lange and Related Disorders Panel Genetic Services Laboratory University of Chicago United States	12	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
180K CGH+SNP microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	231	1	D Deletion/duplication analysis H Detection of homozygosity
Cornelia de Lange syndrome Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Cohesinopathies (Cornelia de Lange Syndrome) MGZ Medical Genetics Center Germany	5	5	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.