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Results: 21 to 40 of 93

Tests names and labsConditionsGenes, analytes, and microbesMethods

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
3024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta Deletion / Duplication panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
3024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

PreventionGenetics, part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel

PreventionGenetics, part of Exact Sciences
United States
3727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Low Bone Mass Panel (MitomeNGS)

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Osteogenesis Imperfecta Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
2819
  • C Sequence analysis of the entire coding region

PLOD2

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel 

CGC Genetics Unilabs
Portugal
17367
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta (WES based NGS panel of 26 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
126
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias and Disorders Panel 

CGC Genetics Unilabs
Portugal
1606
  • C Sequence analysis of the entire coding region

Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1240
  • C Sequence analysis of the entire coding region

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

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

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 93

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.