Clinical and research tests for C0086795 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HURLER-SCHEIE SYNDROME (Mucopolysaccharidosis type 1h), MPS1 (IDUA 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 Ih, 607014, Autosomal recessive (Mucopolysaccharidosis type 1), MPS1 (IDUA 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 Ih, 607014, Autosomal recessive (Mucopolysaccharidosis type 1), MPS1 (IDUA 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 Labcorp Genetics (formerly Invitae) LabCorp United States	50	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Lysosomal Storage Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	87	57	D Deletion/duplication analysis
Invitae Lysosomal Storage Disorders Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	19	10	D Deletion/duplication analysis
Invitae Mucopolysaccharidoses Plus (MPS+) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	38	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IDUA Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
IDUA Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	3	1	T Targeted variant analysis
IDUA Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region
Mucopolysaccharidosis Type I via the IDUA Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
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

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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.