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Results: 1 to 20 of 47 (representing 23 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

Mannosidosis-alpha

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

MAN2B1. Detection of the mutations p.Arg750Trp, p.Leu809Pro and c.1830 1G>C by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MAN2B1. Complete sequencing

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

Alpha-Mannosidosis via the MAN2B1 Gene

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

MitoMet®Plus aCGH Analysis

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

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

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

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

Alpha-Mannosidosis: Alpha-Mannosidase Enzyme Activity, Leukocytes

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

NGS Neurodegenerative disorders Multi-Gene Panel (60 genes)

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
4160
  • 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

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

Alpha-Mannosidosis , Sequencing MAN2B1 Gene

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

Results: 1 to 20 of 47

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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