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Results: 1 to 20 of 25

Tests names and labsConditionsGenes, analytes, and microbesMethods

MSX1 - 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

CentoDysmorph Panel

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

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

Ectodermal dysplasia 3, Witkop type, 189500, Autosomal dominant (Hypodontia-dysplasia of nails syndrome) (MSX1 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

Ectodermal dysplasia 3, Witkop type, 189500, Autosomal dominant (Hypodontia-dysplasia of nails syndrome) (MSX1 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

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

Witkop syndrome Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Witkop syndrome Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Witkop syndrome Sequencing test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Oligodontia - Selective tooth agenesis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Oligodontia - Selective tooth agenesis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Oligodontia - Selective tooth agenesis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Tooth Agenesis Panel

PreventionGenetics, part of Exact Sciences
United States
159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ectodermal Dysplasia/Tooth Agenesis via the MSX1 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14873
  • D Deletion/duplication analysis

Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel.

Genologica Medica
Spain
4916
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1311
  • C Sequence analysis of the entire coding region

Cleft Palate/Lip NGS Panel

Fulgent Genetics
United States
12723
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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.