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Results: 1 to 20 of 41 (representing 18 labs)

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

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

Fucosidosis

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

Fucosidosis

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

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

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

Liver and Spleen panel

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
76
  • E Enzyme assay

Neurodegenerative panel

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
66
  • E Enzyme assay

Fucosidosis

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

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • -- Sequence analysis of the entire coding region

Comprehensive Neurogenetics Panel (359 genes)

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

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

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
1312
  • E Enzyme assay

Oligosaccharidosis and Congenital Disorders of Glycosylation: High resolution Oligosaccharide (Free Glycan) Profile, Urine

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
131
  • A Analyte

Fucosidosis: Alpha-Fucosidase Enzyme Activity, Leukocytes

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • E Enzyme assay

Lysosomal Storage Disease: Glycosaminoglycans (GAGs) and Oligosaccharide Profile, Urine

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
162
  • A Analyte

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Urine for oligosaccharide by TLC

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
31
  • A Analyte

Fucosidosis , Sequencing FUCA1 Gene

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

Invitae Oligosaccharidoses Panel

Invitae
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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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