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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mucopolysaccharidosis Is, 607016, Autosomal recessive (Mucopolysaccharidosis type 1s) (SCHEIE SYNDROME), MPS1 (IDUA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis Is, 607016, Autosomal recessive (Mucopolysaccharidosis type 1s) (SCHEIE SYNDROME), MPS1 (IDUA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

TMPRSS3 Gene Deafness, autosomal recessive type 8/10 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

IDUA Gene Sequencing

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
41
  • T Targeted variant analysis

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5818
  • E Enzyme assay

Hurler syndrome

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
41
  • E Enzyme assay

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

IDUA - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
31
  • C Sequence analysis of the entire coding region

IDUA - Mucopolysaccharidosis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
31
  • C Sequence analysis of the entire coding region

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Broad Carrier Screen without X-linked Disorders

Labcorp Genetics (formerly Invitae) LabCorp
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • 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
171137
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • 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
8757
  • D Deletion/duplication analysis

Results: 1 to 20 of 46

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.