U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

HYPEROSTOSIS CORTICALIS GENERALISATA (Hyperostosis corticalis generalisata) (SOST 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

Van Buchem disease, 239100, Autosomal recessive (Hyperostosis corticalis generalisata) (SOST 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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Van Buchem disease (sequence analysis of SOST gene)

CGC Genetics Unilabs
Portugal
11
  • 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

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

SOST-Related Sclerosing Bone Dysplasia (SOST Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SOST-Related Sclerosing Bone Dysplasias: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

SCLEROSTEOSIS (VAN BUCHEM DISEASE)

Laboratorio de Genetica Clinica SL
Spain
21
  • C Sequence analysis of the entire coding region

HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

SOST Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.