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Results: 1 to 20 of 70

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • 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

Baby Genes Newborn Screening Panel

Baby Genes Inc.
United States
6581
  • T Targeted variant analysis

Krabbe disease

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

Krabbe disease

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

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

GALC. MLPA analysis

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

GALC. Deletion analysis of 502T/del

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

GALC. Complete sequencing

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

GALC Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

GALC Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

GALC Sequence Analysis

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

MitoMet®Plus aCGH Analysis

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

Krabbe Disease Testing via the GALC Gene

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

Krabbe Disease Testing via GALC Exons 11-17 (502T/Del)

PreventionGenetics
United States
11
  • D Deletion/duplication analysis

Galactocerebrosidase Enzyme Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Enzyme assay

Galactocerebrosidase Enzyme Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • E Enzyme assay

Results: 1 to 20 of 70

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.