Clinical and research tests for C0086649 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
HGSNAT - Sanger sequencing Centogene AG - the Rare Disease Company Germany	2	1	C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 IIIC (Sanfilippo C), 252930, Autosomal recessive; MPS3C (Mucopolysaccharidosis type 3) (HGSNAT 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 IIIC (Sanfilippo C), 252930, Autosomal recessive; MPS3C (Mucopolysaccharidosis type 3) (HGSNAT 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 Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mucopolysaccharidosis Type IIIC Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	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
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
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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