Clinical and research tests for C1567741 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	330	748	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	748	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
ALPORT SYNDROME Laboratorio de Genetica Clinica SL Spain	1	3	D Deletion/duplication analysis
Alport Syndrome Panel GeneDx United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Renal Disorders Panel Dhiti Omics Technologies Private Ltd India	72	57	C Sequence analysis of the entire coding region
Inherited Loss of Hearing Panel Dhiti Omics Technologies Private Ltd India	8	179	C Sequence analysis of the entire coding region
Alport Syndrome Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	1	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Kidney Genetics Mutation Panel Molecular Genetics University of North Carolina Hospitals United States	3	16	C Sequence analysis of the entire coding region
Hearing Loss Test GeneDx United States	56	150	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
COL4A5 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL4A4 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL4A3 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alport syndrome Laboratory of Human Genetics GENOMED Health Care Center Poland	1	3	C Sequence analysis of the entire coding region
Hereditary kidney disorders - different panels Institute of Human Genetics Cologne University Germany	32	481	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.