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Results: 1 to 20 of 37

Tests names and labsConditionsGenes and analytesMethods

High-Resolution Rapid Microarray (CGH and SNP)

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

Rapid microarray (CGH and SNP)

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

Waardenburg syndrome, type 2E, with or without neurologic involvement

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ambiguous Genitalia Sequencing Panel with CNV Detection

PreventionGenetics
United States
12985
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypopigmentation Sequencing Panel with CNV Detection

PreventionGenetics
United States
3530
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection

PreventionGenetics
United States
143156
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg syndrome Deletion / Duplication panel

Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg syndrome Comprehensive panel

Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg syndrome NGS panel

Connective Tissue Gene Tests
United States
87
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg Syndrome Sequencing Panel with CNV Detection

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

Waardenburg Syndrome Types IIE and IVC via SOX10 Gene Sequencing with CNV Detection

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

OtoSCOPE

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
181153
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
249184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
86
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy

Asper Biogene Asper Biogene LLC
Estonia
4739
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WAARDENBURG SYNDROME TYPE 2

Laboratorio de Genetica Clinica SL
Spain
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg syndrome (NGS panel of 7 genes)

CGC Genetics
Portugal
77
  • C Sequence analysis of the entire coding region

Waardenburg syndrome (NGS panel of 7 genes)

CGC Genetics
Portugal
77
  • C Sequence analysis of the entire coding region

Audiome (hearing loss panel)

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
117106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
76
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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.

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