Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 36 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7850
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis type IIIC

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Type III Sequencing Panel

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

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 Type IIIC , Sequencing HGSNAT Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Mucopolysaccharidosis Type III (MPS III) Panel

Invitae
United States
64
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel

Invitae
United States
2211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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
  • A Analyte
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • 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
6775
  • 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

Results: 1 to 20 of 36

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.

Support Center