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Results: 1 to 20 of 32

Tests names and labsConditionsGenes and analytesMethods

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7950
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis type IIIC

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis Type III NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

HGSNAT. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Mucopolysaccharidosis Type IIIC / Sanfilippo Syndrome C via the HGSNAT Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis, MPS-III-C

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Single gene testing HGSNAT

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis type IIIC

Institute of Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
299297
  • T Targeted variant analysis

Mucopolysaccharidosis type IIIC

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
6574
  • C Sequence analysis of the entire coding region

Sanfilippo C syndrome

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders Panel

CeGaT GmbH
Germany
1529
  • C Sequence analysis of the entire coding region

Lysosomal Disorders Panel

CeGaT GmbH
Germany
1529
  • C Sequence analysis of the entire coding region

lysoSEEK™ Sequence Analysis for Lysosomal Storage Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11588
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Storage Disorders Panel Sequencing, 51 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
5751
  • C Sequence analysis of the entire coding region

HGSNAT

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.