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Results: 1 to 20 of 129

Tests names and labsConditionsGenes, analytes, and microbesMethods

GALC Gene Sequencing

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
21
  • T Targeted variant analysis

GALC Gene Common 30-kb Deletion Detection, Krabbe Disease

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
21
  • T Targeted variant analysis

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5818
  • E Enzyme assay

Lysosomal/Peroxisomal D/O Scrn, BS

Mayo Clinic Laboratories Mayo Clinic
United States
1011
  • A Analyte

Galactocerebrosidase, WBC

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • E Enzyme assay

Psychosine, CSF

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Psychosine, RBC

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Psychosine, BS

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
2423
  • E Enzyme assay

Krabbe Disease

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • E Enzyme assay

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Galactocerebrosidase deficiency (Krabbe)

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
51
  • E Enzyme assay

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GALC - MLPA

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis

GALC - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 129

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.