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Results: 1 to 20 of 33 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

Bruck syndrome 2 - Sanger / Del Dup Comprehensive

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

Bruck syndrome 2 (BRKS2) - Deletion/Duplication

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

Bruck syndrome 2 (BRKS2) - Sanger Sequencing

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

Osteogenesis imperfecta with congenital joint contractures

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

Osteogenesis imperfecta with congenital joint contractures

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

Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel

PreventionGenetics
United States
3325
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel

PreventionGenetics
United States
2719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PLOD2. Complete sequencing

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

Low Bone Mass Panel (MitomeNGS)

Baylor Genetics
United States
3922
  • C Sequence analysis of the entire coding region

PLOD2 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PLOD2 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

PLOD2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

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

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

Chondrodysplasia punctata Panel

CeGaT GmbH
Germany
2322
  • C Sequence analysis of the entire coding region

Bruck syndrome 2

Bioarray
Spain
11
  • D Deletion/duplication analysis

Autosomal Recessive Osteogenesis Imperfecta Panel

Collagen Diagnostic Laboratory University of Washington
United States
1312
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bruck syndrome 2 (BRKS2, sequence analysis of PLOD2 gene)

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

Results: 1 to 20 of 33

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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