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Results: 1 to 20 of 406

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
19592
  • D Deletion/duplication analysis

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis 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

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

Bone diseases panel_v.2.0

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

GLAUCOMA EXOME PANEL

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

SKELETAL DYSPLASIAS PANEL

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

Ectopia lentis panel. 14-gene NGS panel.

Genologica Medica
Spain
2614
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Ectopia Lentis NGS Panel

Fulgent Genetics
United States
4915
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ectopia Lentis Panel

Blueprint Genetics
Finland
114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Weill-Marchesani Syndrome: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 406

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.