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Results: 21 to 39 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Spondyloepimetaphyseal dysplasia with joint laxity: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

SDF4 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel

CeGaT GmbH
Germany
2727
  • C Sequence analysis of the entire coding region

B4GALT7 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

FKBP14 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

XYLT1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

CHST14 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

B3GALT6 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

B3GAT3 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

ADAMTS2 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

SLC39A13 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

Recessive EDS panel

Connective Tissue Laboratory Ghent University Hospital
Belgium
1010
  • C Sequence analysis of the entire coding region

PLOD1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

DSE mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
101
  • E Sequence analysis of select exons

B3GALT6 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome NGS Panel

Fulgent Genetics
United States
9721
  • 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
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue NGS Panel

Fulgent Genetics
United States
18760
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 39 of 39

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.