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Results: 1 to 20 of 29 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

Osteoporosis-pseudoglioma syndrome - Sanger / Del Dup Comprehensive

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

Osteoporosis-pseudoglioma syndrome (OPPG) - Deletion/Duplication

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

Osteoporosis-pseudoglioma syndrome (OPPG) - Sanger Sequencing

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

Osteoporosis pseudoglioma syndrome

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

Skeletal Disorders and Joint Problems Sequencing Panel

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

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Osteogenesis imperfecta and osteoporosis - different panels

Institute of Human Genetics Cologne University
Germany
923
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

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

Osteoporosis-Pseudoglioma Syndrome , Sequencing LRP5 Gene

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

Bone Disorder/O.I. Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11162
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Dominant Bone Fragility Panel

Collagen Diagnostic Laboratory University of Washington
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FEVR Panel

Molecular Vision Laboratory
United States
95
  • C Sequence analysis of the entire coding region

Vitreoretinopathy panel

Molecular Vision Laboratory
United States
3719
  • C Sequence analysis of the entire coding region

OSTEOGENESIS IMPERFECTA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1314
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
2527
  • D Deletion/duplication analysis

NGS panel - Osteogenesis Imperfecta and related disorders

Genome Diagnostics VU University Medical Center
Netherlands
519
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Genetic Bone Disorders Panel

Collagen Diagnostic Laboratory University of Washington
United States
2730
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing LRP5

CeGaT GmbH
Germany
51
  • C Sequence analysis of the entire coding region

LRP5

Fulgent Genetics
United States
81
  • 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

Results: 1 to 20 of 29

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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