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Results: 1 to 20 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

FLNB Gene Sequencing

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

MVL Vision Panel

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

FLNB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication 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 Deletion / Duplication panel

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

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

Larsen syndrome, 150250, Autosomal dominant; LRS (Autosomal dominant Larsen syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Larsen syndrome, 150250, Autosomal dominant; LRS (Autosomal dominant Larsen syndrome) (FLNB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Larsen syndrome, 150250, Autosomal dominant; LRS (Autosomal dominant Larsen syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Larsen syndrome, 150250, Autosomal dominant; LRS (Autosomal dominant Larsen syndrome) (FLNB gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Larsen syndrome, autosomal dominant NGS Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Larsen syndrome, autosomal dominant Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Larsen syndrome, autosomal dominant Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, Part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis 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.