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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

Facial Dysostosis Panel

Genetic Services Laboratory University of Chicago
United States
1418
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ALX1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Facial Dysostosis and Frontonasal Dysplasia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4428
  • D Deletion/duplication analysis

Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
45
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontonasal dysplasia 3, 613456; FND3 (Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome) (ALX1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Frontonasal dysplasia 3, 613456; FND3 (Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome) (ALX1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

CraniofacialZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
11045
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
45
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
13081
  • D Deletion/duplication analysis

Frontonasal dysplasia 3 (sequence analysis of ALX1 gene)

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

Craniofacial panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
4848
  • C Sequence analysis of the entire coding region

Frontonasal dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • 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: 1 to 20 of 27

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.