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Results: 21 to 40 of 75

Tests names and labsConditionsGenes, analytes, and microbesMethods

Glaucoma panel

Amplexa Genetics Amplexa Genetics A/S
Denmark
118
  • S Mutation scanning of the entire coding region

Weill-Marchesani syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Weill-Marchesani syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Weill-Marchesani syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
44
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
224202
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Glaucoma Panel

PreventionGenetics, part of Exact Sciences
United States
3824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Congenital Glaucoma via the LTBP2 Gene

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

Skeletal Disorders Panel

Baylor Genetics
United States
1354
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

Baylor Genetics
United States
192
  • C Sequence analysis of the entire coding region

Glaucoma Panel 

CGC Genetics Unilabs
Portugal
126
  • C Sequence analysis of the entire coding region

Ehlers-Danlos, Marfan and differential diagnosis panel_v.2.0

CGC Genetics Unilabs
Portugal
158
  • C Sequence analysis of the entire coding region

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Glaucoma, primary congenital (sequence analysis of LTBP2 gene)

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

Primary congenital glaucoma, 3D , Megalocornea and / or microspherophaquia, with ectopia lentis and with or without secondary glaucoma , Weill-Marchesani syndrome (deletion / duplication analysis on LTBP2 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Corneal Diseases Panel

Mendelics
Brazil
128
  • C Sequence analysis of the entire coding region

Marfan Syndrome and Associated Diseases Panel

Mendelics
Brazil
160
  • C Sequence analysis of the entire coding region

GLAUCOMA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
150
  • E Sequence analysis of select exons

SHORT STATURE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1152
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

Comprehensive Eye panel

Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine
United States
1695
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 75

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.