Clinical and research tests for C0086650 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Mucopolysaccharidosis type IIID, 252940, Autosomal recessive; MPS3D (Mucopolysaccharidosis type 3) (GNS 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
Mucopolysaccharidosis type IIID, 252940, Autosomal recessive; MPS3D (Mucopolysaccharidosis type 3) (GNS 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
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 Comprehensive Carrier Screen Invitae United States	886	547	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
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
Invitae Comprehensive Lysosomal Storage Disorders Panel Invitae United States	87	57	D Deletion/duplication analysis
Invitae Mucopolysaccharidoses Plus (MPS+) Panel Invitae United States	38	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Mucopolysaccharidosis Type III Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Mucopolysaccharidosis Type IIID / Sanfilippo Syndrome D via the GNS Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Lysosomal Storage Diseases Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	50	43	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Mucopolysaccharidosis Asper Biogene Asper Biogene LLC Estonia	16	11	C Sequence analysis of the entire coding region
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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