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Results: 1 to 20 of 28

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

GNPTG. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

GNPTAB. Detection of the mutation 3503_3504delTC by sequencing

Instituto de Medicina Genomica
Spain
21
  • T Targeted variant analysis

GNPTAB. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

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

Mucolipidosis and Stuttering via the GNPTAB Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Emory Genetics Laboratory Emory University
United States
131
  • A Analyte

Mucolipidosis II and III, GNPTAB-related

Integrated Genetics Westborough Integrated Genetics
United States
21
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3055447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucolipidosis type 3

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Mucolipidosis III (sequence analysis of GNPTAB gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

lysoSEEK™ Sequence Analysis for Lysosomal Storage Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11588
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Storage Disorders Panel Sequencing, 51 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
5751
  • C Sequence analysis of the entire coding region

GNPTAB

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

Stuttering NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
121101
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
8855
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.