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Results: 1 to 20 of 34 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, type VIII - Sanger / Del Dup Comprehensive

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

Osteogenesis imperfecta, type VIII - Deletion/Duplication

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

Osteogenesis imperfecta, type VIII - Sanger Sequencing

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

Osteogenesis imperfecta type VIII

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

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 via the P3H1 / LEPRE1 Gene

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

LEPRE 1. Complete sequencing

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

Low Bone Mass Panel (MitomeNGS)

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

MitoMet®Plus aCGH Analysis

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

Osteogenesis Imperfecta , Sequencing LEPRE1 Gene

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

Invitae Ehlers-Danlos Syndrome Panel

Invitae
United States
3514
  • D Deletion/duplication analysis
  • 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

Osteogenesis Imperfecta Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2315
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta

Molecular Vision Laboratory
United States
103
  • C Sequence analysis of the entire coding region

Invitae Osteogenesis Imperfecta Panel

Invitae
United States
74
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 34

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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