Clinical and research tests for C0026709 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lysosomal diseases panel Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States	57	18	E Enzyme assay
Urine GAG study for MPS (Qualitative and Quantitative) Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	8	1	A Analyte
Lysosomal storage disorder by enzyme study from amniotic fluid and CVS Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	24	23	E Enzyme assay
Mucopolysaccharide enzyme panel Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	8	8	E Enzyme assay
Martoteaux-Lamy syndrome Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	1	1	E Enzyme assay
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	77	50	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
ARSB - 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
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
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 Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	17	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200, Autosomal recessive; MPS6 (Mucopolysaccharidosis type 6) (ARSB 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
Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200, Autosomal recessive; MPS6 (Mucopolysaccharidosis type 6) (ARSB 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
Invitae Metabolic Non-Immune Fetal Hydrops Panel Invitae United States	50	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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