Clinical and research tests for C0002986 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lysosomal/Peroxisomal D/O Scrn, BS Mayo Clinic Laboratories Mayo Clinic United States	9	10	A Analyte
Ceramide Trihexosides and Sulfatides, Random, Urine Mayo Clinic Laboratories Mayo Clinic United States	5	2	A Analyte
Lyso-GB3, S Mayo Clinic Laboratories Mayo Clinic United States	1	1	A Analyte
CentoMetabolic MOx Centogene US, LLC - The Rare Disease Company United States	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoXome MOx (Whole Exome Sequencing) Centogene US, LLC - The Rare Disease Company United States	13	20	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region U Uniparental disomy study (UPD)
CentoLSD Centogene US, LLC - The Rare Disease Company United States	12	18	A Analyte
CentoLSD MOx Centogene US, LLC - The Rare Disease Company United States	12	37	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSphingo MOx Centogene US, LLC - The Rare Disease Company United States	10	20	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSphingo Centogene US, LLC - The Rare Disease Company United States	10	10	A Analyte
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoXome MOx (Whole Exome Sequencing) Centogene AG - the Rare Disease Company Germany	13	19	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region U Uniparental disomy study (UPD)
CentoLSD Centogene AG - the Rare Disease Company Germany	12	18	A Analyte
CentoLSD MOx Centogene AG - the Rare Disease Company Germany	12	36	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSphingo Centogene AG - the Rare Disease Company Germany	10	10	A Analyte
CentoSphingo MOx Centogene AG - the Rare Disease Company Germany	10	20	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders PerkinElmer Genomics United States	7	5	A Analyte
α-Galactosidase Metabolic Disease Laboratory University of Alabama Birmingham United States	1	1	A Analyte E Enzyme assay

Results: 1 to 17 of 17

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