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Results: 1 to 20 of 26

Tests names and labsConditionsGenes and analytesMethods

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

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos Syndrome Sequencing Panel

PreventionGenetics
United States
2928
  • 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 -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

Disproportionate Short Stature: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19876
  • C Sequence analysis of the entire coding region

LARSEN SYNDROME (AUTOSOMAL DOMINANT)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Autosomal Dominant Larsen Syndrome, Sequencing Exons ( 2-5, 27-33) FLNB Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Larsen Syndrome , Sequencing FLNB Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Connective Tissue Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
14783
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Larsen syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Larsen syndrome (deletion/duplication analysis on FLNB gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

FLNB

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.

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