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Results: 101 to 108 of 108

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pfeiffer syndrome: FGFR1 gene (exon 7) and FGFR2 gene (exons 7-8, 13-15) screening

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
12
  • E Sequence analysis of select exons

Craniosynostosis: FGFR2 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
61
  • C Sequence analysis of the entire coding region

Craniosynostosis: FGFR1 gene (exon 7), FGFR2 gene (exon 7) and FGFR3 gene (exons 6, 8) sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
53
  • C Sequence analysis of the entire coding region

FGFR1-related craniosynostosis

Institute of Human Genetics Cologne University
Germany
11
  • C Sequence analysis of the entire coding region

FGFR2-related craniosynostosis

Institute of Human Genetics Cologne University
Germany
11
  • C Sequence analysis of the entire coding region

FGFR1-Related Craniosynostosis

Bioscientia GmbH Center for Human Genetics
Germany
11
  • C Sequence analysis of the entire coding region

FGFR2-Related Disorders: FGFR2 Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
51
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Test for Pfeiffer syndrome

Genome Diagnostics Laboratory The Hospital for Sick Children
Canada
12
  • E Sequence analysis of select exons

Results: 101 to 108 of 108

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.