Clinical and research tests for C0027877 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CLN1 and CLN2, BS Mayo Clinic Laboratories Mayo Clinic United States	3	0	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
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	205	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoLSD MOx Centogene AG - the Rare Disease Company Germany	12	24	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNCL Centogene AG - the Rare Disease Company Germany	1	2	A Analyte
CentoNCL Centogene AG - the Rare Disease Company Germany	1	2	A Analyte
CentoNCL MOx Centogene AG - the Rare Disease Company Germany	1	4	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
Comprehensive Inherited Retinal Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	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

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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.