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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication 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

Paget disease of bone 2, early-onset, 602080, Autosomal dominant; PDB2 (Familial expansile osteolysis) (TNFRSF11A 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

Paget disease of bone and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paget disease of bone and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Paget disease of bone and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication 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

Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Paget Disease of Bone via the SQSTM1 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

Paget Disease of Bone (PDB) Panel

PreventionGenetics, part of Exact Sciences
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel.

Genologica Medica
Spain
6032
  • C Sequence analysis of the entire coding region

Osteoporosis and bone dysplasia panel. 25-gene NGS panel.

Genologica Medica
Spain
5625
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

TNFRSF11A

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.