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Results: 1 to 20 of 51

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

ALX3 Gene Frontonasal dysplasia type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

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

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 1, 136760, Autosomal recessive; FND1 (Frontorhiny) (ALX3 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 1, 136760, Autosomal recessive; FND1 (Frontorhiny) (ALX3 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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

Frontonasal Dysplasia (Frontorhiny) via the ALX3 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniofacial Panel

Genetic Services Laboratory University of Chicago
United States
3135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 51

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.