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Results: 1 to 20 of 21

Tests names and labsConditionsGenes and analytesMethods

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Center
Canada
7850
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GBA. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

GBA. Detection of the mutations p.Asn370Ser, p.Leu444Pro, c.93_94insG and c.27 1G>A by sequencing

Instituto de Medicina Genomica
Spain
41
  • T Targeted variant analysis

Gaucher Disease Ashkenazic Mutation Panel

Baylor Miraca Genetics Laboratories
United States
71
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (without Cystic Fibrosis)

Baylor Miraca Genetics Laboratories
United States
115
  • T Targeted variant analysis

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis)

Baylor Miraca Genetics Laboratories
United States
125
  • T Targeted variant analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gaucher Disease via the GBA Gene

PreventionGenetics
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gaucher disease - ophthalmoplegia - cardiovascular calcification

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

Single gene testing GBA

CeGaT GmbH
Germany
51
  • C Sequence analysis of the entire coding region

GBA Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
71
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

GBA

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GBA

Institute for Human Genetics University Clinic Freiburg
Germany
71
  • 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

Parkinson-Alzheimer-Dementia NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
8237
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
192106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.