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Results: 41 to 55 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

EFEMP2 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
221
  • E Sequence analysis of select exons

COG7 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

ATP7A mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

ATP6V0A2 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

ELN mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
191
  • E Sequence analysis of select exons

ALDH18A1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

FBNL5 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

PYCR1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

SCYL1BP1 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

PYCR1 Single Gene

Fulgent Genetics
United States
21
  • 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

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • 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: 41 to 55 of 55

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.