U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Bone Fragility and Fracture Panel

PreventionGenetics
United States
8572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis, autosomal dominant 2, 166600, Autosomal dominant; OPTA2 (Albers-Schönberg osteopetrosis) (CLCN7 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Osteopetrosis, autosomal dominant 2, 166600, Autosomal dominant; OPTA2 (Albers-Schönberg osteopetrosis) (CLCN7 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 NGS Test

HNL Genomics Connective Tissue Gene Tests
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteopetrosis core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
43
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8757
  • D Deletion/duplication analysis

Results: 1 to 20 of 51

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.