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Results: 1 to 20 of 114

Tests names and labsConditionsGenes, analytes, and microbesMethods

OI and Bone Fragility Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatasia (HPP) and Osteogenesis Imperfecta (OI) Genetic Panel (2 Day STAT TAT)

Machaon Diagnostics
United States
1815
  • C Sequence analysis of the entire coding region

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code
Spain
6030
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

COL1A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL1A2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, Part of Exact Sciences
United States
345159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Bone Fragility and Fracture Panel

PreventionGenetics, Part of Exact Sciences
United States
8774
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LowBoneDensityZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11050
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, type III, 259420, Autosomal dominant (Osteogenesis imperfecta) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Osteogenesis imperfecta, type III, 259420, Autosomal dominant (Osteogenesis imperfecta) (COL1A1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Osteogenesis imperfecta, type III, 259420, Autosomal dominant (Osteogenesis imperfecta) (COL1A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, type III, 259420, Autosomal dominant (Osteogenesis imperfecta) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (COL1A2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (COL1A2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 114

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.