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Results:
78 genetic tests from 24 labs with tests matching your search, 2 labs matching in other ways
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Tests names and labsConditionsGenes, analytes, and microbesMethods

Pfeiffer syndrome, 101600, Autosomal dominant (Pfeiffer syndrome) (FGFR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome, 101600, Autosomal dominant (Pfeiffer syndrome) (Prenatal) (MLPA)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Pfeiffer syndrome, 101600, autosomal dominant (Pfeiffer syndrome) (FGFR2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome, 101600, Autosomal dominant (Pfeiffer syndrome) (FGFR1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome, 101600, Autosomal dominant (Pfeiffer syndrome) (MLPA)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Pfeiffer syndrome, 101600, autosomal dominant (Pfeiffer syndrome) (FGFR2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome

Labor Dr. Wisplinghoff
Germany
12
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FGFR1 Gene Pfeiffer syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

FGFR2 Gene Pfeiffer syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Craniofacial-skeletal-dermatologic dysplasia, 101600, Autosomal dominant (Pfeiffer syndrome) (FGFR2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Craniofacial-skeletal-dermatologic dysplasia, 101600, Autosomal dominant (Pfeiffer syndrome) (FGFR2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Test for Pfeiffer syndrome

Genome Diagnostics Laboratory, Hospital For Sick Children
Canada
12
  • E Sequence analysis of select exons

Pfeiffer syndrome (deletion/duplication analysis of FGFR1 gene)

CGC Genetics, Unilabs
Portugal
11
  • D Deletion/duplication analysis

Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes)

CGC Genetics, Unilabs
Portugal
12
  • C Sequence analysis of the entire coding region

Crouzon syndrome , Pfeiffer syndrome , Apert syndrome , Saethre-Chotzen syndrome , Jackson-Weiss syndrome , Antley-Bixler syndrome , Beare-Stevenson syndrome , LADD syndrome , Bent bone dysplasia (sequence analysis of FGFR2 gene)

CGC Genetics, Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome (sequence analysis of FGFR1 gene)

CGC Genetics, Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics
United States
284218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FGFR1-related craniosynostosis: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
31
  • C Sequence analysis of the entire coding region
78 tests from 24 labs
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Page 1 of 4
Pfeiffer syndrome by Labor Dr. Wisplinghoff
1 condition, 2 genes
Pfeiffer syndrome by Praxis fuer Humangenetik Wien
1 condition, 1 gene
Pfeiffer syndrome by Praxis fuer Humangenetik Wien
1 condition, 1 gene
Test for Pfeiffer syndrome by Genome Diagnostics Laboratory, Hospital For Sick Children
1 condition, 2 genes
OtoSCOPE v9 by Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics
284 conditions, 218 genes
FGFR1-related craniosynostosis: gene sequencing by CEN4GEN Institute for Genomics and Molecular Diagnostics
3 conditions, 1 gene

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.