Filters

See more specimen types...

Other countries

Results: 1 to 20 of 22

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

PAX3 Gene sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
31
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome, Type 1 and 3 - PAX 3 Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome Panel (6 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
76
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg syndrome Sequencing Panel

PreventionGenetics
United States
126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PAX3. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

PAX3. MLPA testing

Instituto de Medicina Genomica
Spain
41
  • D Deletion/duplication analysis

OtoGenome Test for Hearing Loss (87 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
11286
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg Syndrome Types I and III via the PAX3 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg Syndrome Type I, 3 - PAX3 Sequencing

Molecular Genetics Laboratory Children's Hospital Colorado
United States
31
  • C Sequence analysis of the entire coding region

Waardenburg, Syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
96
  • C Sequence analysis of the entire coding region

Genetic disorders with abnormal pigmentation Panel

CeGaT GmbH
Germany
2932
  • C Sequence analysis of the entire coding region

Pigmentation panel

Molecular Vision Laboratory
United States
4529
  • C Sequence analysis of the entire coding region

qChip

Quantitative Genomic Medicine Laboratories, SL
Spain
183162
  • D Deletion/duplication analysis

PAX3

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
202103
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg 3

MedGene
Slovakia
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg 3

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.