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Results: 21 to 40 of 65

Tests names and labsConditionsGenes, analytes, and microbesMethods

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Spondylo-Epi-Metaphyseal dysplasias NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Disorders Panel

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

XYLT1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • 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

Desbuquois syndrome (sequence analysis of XYLT1 gene)

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

Results: 21 to 40 of 65

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.