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Results: 1 to 20 of 39 (representing 24 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

Mucolipidosis IV

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Mucolipidosis Type IV Mutation Detection

Molecular Diagnostic Laboratory LabCorp
United States
11
  • T Targeted variant analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucolipidosis Type IV via the MCOLN1 Gene

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

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
1599
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inheritest NGS, Comprehensive

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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucolipidosis type IV

Integrated Genetics Westborough Integrated Genetics
United States
11
  • T Targeted variant analysis

Ashkenazi Jewish Carrier Testing

Integrated Genetics Westborough Integrated Genetics
United States
1919
  • T Targeted variant analysis

Inheritest NGS, Ashkenazi Jewish Ancestry Panel

Integrated Genetics Westborough Integrated Genetics
United States
4039
  • T Targeted variant analysis

Inheritest NGS, Society Guided Panel

Integrated Genetics Westborough Integrated Genetics
United States
1412
  • T Targeted variant analysis

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MCOLN1 Gene Sequencing

GeneDx
United States
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

Single gene testing MCOLN1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

ACOG/ACMG Carrier Screen: Gene Sequencing Panel

Emory Genetics Laboratory Emory University
United States
1110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
7979
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel

Emory Genetics Laboratory Emory University
United States
2020
  • X Mutation scanning 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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