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Results: 1 to 20 of 39 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Center
Canada
7850
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis type VI

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
329300
  • -- Sequence analysis of the entire coding region

ARSB. Complete sequencing

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

ARSB Sequence Analysis

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

ARSB Prenatal Sequence Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

ARSB Familial Mutation/Variant Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Mucopolysaccharidosis Type VI / Maroteaux-Lamy Syndrome via the ARSB Gene

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

Lysosomal Storage Disease: Panel Enzyme Activity (12 Enzymes), Leukocytes

Emory Genetics Laboratory Emory University School of Medicine
United States
1312
  • E Enzyme assay

Mucopolysaccaridosis Type VI (Maroteaux Lamy Syndrome): Arylsulfatase B Enzyme Activity, Leukocytes

Emory Genetics Laboratory Emory University School of Medicine
United States
11
  • E Enzyme assay

Inheritest NGS, Comprehensive

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

Mucopolysaccharidosis type VI

Integrated Genetics Westborough Integrated Genetics
United States
11
  • 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

ARSB Gene Sequencing

GeneDx
United States
11
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis type IV

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

Mucopolysaccharidosis type VI (Maroteaux-Lamy, sequence analysis of ARSB gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Pan-Ethnic Carrier Screen: Gene Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
136147
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

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.

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