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Results: 1 to 20 of 25

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

Farber disease

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

Farber Lipogranulomatosis via ASAH1 Gene Sequencing with CNV Detection

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

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes

Reference Laboratory Genetics
Spain
10882
  • C Sequence analysis of the entire coding region

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes

Reference Laboratory Genetics
Spain
10978
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease

Asper Biogene Asper Biogene LLC
Estonia
7050
  • C Sequence analysis of the entire coding region

FARBER LIPOGRANULOMATOSIS

Laboratorio de Genetica Clinica SL
Spain
11
  • 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

ASAH1 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

Farber Disease, Sequencing ASAH1 Gene

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

Invitae Farber Lipogranulomatosis Test

Invitae
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • 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 ASAH1

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Non-immune Hydrops Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8687
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMA) Panel

CeGaT GmbH
Germany
4427
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

Neuronal Ceroidlipofuscinosis (NCL) Panel

CeGaT GmbH
Germany
2413
  • C Sequence analysis of the entire coding region

ASAH1

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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