Clinical and research tests for 5611 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DNAJC3 Gene Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Ataxia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	199	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DNAJC3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192, Autosomal recessive; ACPHD (Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome) (DNAJC3 gene) (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Monogenic Diabetes Panel Genetic Services Laboratory University of Chicago United States	14	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Ataxia Panel CGC Genetics Unilabs Portugal	1	242	C Sequence analysis of the entire coding region
Diabetes Panel CGC Genetics Unilabs Portugal	1	76	C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
CoGenesis@Neuro Codex Genetics Limited Hong Kong	1	490	T Targeted variant analysis
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia Xpanded Panel GeneDx United States	1	999	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular disorders - different panels Institute of Human Genetics Cologne University Germany	16	474	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.