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Results: 1 to 20 of 52

Tests names and labsConditionsGenes and analytesMethods

Spondylocarpotarsal synostosis syndrome (SCT) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Spondylocarpotarsal synostosis syndrome (SCT) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Larsen syndrome, autosomal dominant (LRS1) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Larsen syndrome, autosomal dominant (LRS1) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Larsen syndrome, autosomal dominant (LRS1) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Boomerang dysplasia (BD) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Boomerang dysplasia (BD) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Boomerang dysplasia (BD) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Atelosteogenesis type 3

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atelosteogenesis type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylocarpotarsal synostosis syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Larsen syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome Sequencing Panel

PreventionGenetics
United States
1919
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FLNB. Sequencing of the exons 2-5 and exons 27-33

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

FLNB. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

FLNB Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
51
  • C Sequence analysis of the entire coding region

FLNB -Related Disorders via the FLNB Gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
7936
  • C Sequence analysis of the entire coding region

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded)

Genome Diagnostics VU University Medical Center
Netherlands
1520
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 52

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.