Clinical and research tests for C0220756 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hepatosplenomegaly Panel, Plasma Mayo Clinic Laboratories Mayo Clinic United States	5	1	A Analyte
Hepatosplenomegaly Panel, Blood Spot Mayo Clinic Laboratories Mayo Clinic United States	5	1	A Analyte
Oxysterols, P Mayo Clinic Laboratories Mayo Clinic United States	3	1	A Analyte
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	77	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Niemann-Pick Disease Type C Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	41	60	C Sequence analysis of the entire coding region
NPC2 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NPC1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	287	578	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 300 PLUS Panel Integrated Genetics Westborough LabCorp United States	172	350	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Inheritest 100 PLUS panel Integrated Genetics Westborough LabCorp United States	115	142	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Hereditary hepatic diseases (55 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	36	55	C Sequence analysis of the entire coding region
Metabolic Liver Failure Panel Blueprint Genetics Finland	14	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Disorders and Mucopolysaccharidosis Panel Blueprint Genetics Finland	15	102	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.