U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 39

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

ALX4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Invitae
United States
4428
  • D Deletion/duplication analysis

ALX4-Related Disorders via the ALX4 Gene

PreventionGenetics, Part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • 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

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

Polydactyly and Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Frontonasal dysplasia 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (Prenatal) (MLPA)

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

Frontonasal dysplasia 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (ALX4 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 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (ALX4 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

Frontonasal dysplasia 2, 613451, Autosomal recessive; FND2 (Frontonasal dysplasia with alopecia and genital anomaly) (MLPA)

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

CraniofacialZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11045
  • 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 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

Results: 1 to 20 of 39

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.