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Results: 1 to 20 of 23

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Waardenburg syndrome/Hirschsprung disease

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • 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

Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene

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

Waardenburg Syndrome Type IVA via the EDNRB Gene

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

Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • 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

Waardenburg syndrome,Type 4A

bio.logis Center for Human Genetics
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome

Asper Biotech Asper Biotech Ltd.
Estonia
86
  • 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

EDNRB

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hirschsprung Disease NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
155
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg syndrome type 4A (sequence analysis of EDNRB)

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

Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes)

CGC Genetics
Portugal
22
  • 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

Results: 1 to 20 of 23

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.