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Results: 21 to 40 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Limb Malformation Panel

PreventionGenetics, Part of Exact Sciences
United States
7875
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel

PreventionGenetics, Part of Exact Sciences
United States
4053
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Facial Dysostosis Related Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
3319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis and Related Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
195
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR2-Related Disorders via the FGFR2 Gene

PreventionGenetics, Part of Exact Sciences
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniodysmorphology Screen (Targeted FGFR1,2, and 3)

Center for Genetics at Saint Francis Saint Francis Hospital
United States
73
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • 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

Apert syndrome: Full gene sequencing

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

FGFR 2 sequencing

Duzen Laboratories Duzen BBAGUAS
Turkey
51
  • C Sequence analysis of the entire coding region

FGFR2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
91
  • D Deletion/duplication analysis

Custom XomeDx Slice – Disorders of Sex Development (Proband Only) 

GeneDx
United States
21112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FGFR2

Institute for Human Genetics University Medical Center Freiburg
Germany
111
  • C Sequence analysis of the entire coding region

Apert Syndrome (FGFR2 Single Gene Test)

Fulgent Genetics
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Facial Dysostosis and Related Disorders NGS Panel

Fulgent Genetics
United States
8529
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS Panel

Fulgent Genetics
United States
33961
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 64

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.