Clinical and research tests for 4668 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
NAGA Gene Schindler disease NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 MOx Centogene AG - the Rare Disease Company Germany	10	20	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
NAGA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Lysosomal Storage Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Kanzaki disease, 609242, Autosomal recessive (Alpha-N-acetylgalactosaminidase deficiency) (NAGA gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Kanzaki disease, 609242, Autosomal recessive (Alpha-N-acetylgalactosaminidase deficiency) (NAGA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Schindler disease, type I, 609241, Autosomal recessive (Alpha-N-acetylgalactosaminidase deficiency) (NAGA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Schindler disease, type III, 609241, Autosomal recessive (Alpha-N-acetylgalactosaminidase deficiency) (NAGA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Schindler disease, type III, 609241, Autosomal recessive (Alpha-N-acetylgalactosaminidase deficiency) (NAGA gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	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.