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Results: 1 to 20 of 85

Tests names and labsConditionsGenes and analytesMethods

TYR gene sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
21
  • C Sequence analysis of the entire coding region

Waardenburg syndrome/albinism

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

Albinism

Centogene AG - the Rare Disease Company
Germany
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Albinism

Amplexa Genetics Amplexa Genetics A/S
Denmark
128
  • S Mutation scanning of the entire coding region

Hypopigmentation Panel

PreventionGenetics
United States
3631
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Oculocutaneous Albinism Panel

PreventionGenetics
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TYR mutation analysis

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TYR. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

TYR Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
41
  • T Targeted variant analysis

TYR Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
41
  • T Targeted variant analysis

TYR Sequence Analysis

Baylor Genetics
United States
41
  • C Sequence analysis of the entire coding region

Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
843637
  • D Deletion/duplication analysis

Oculocutaneous Albinism, Type 1 - TYR Sequencing

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

Results: 1 to 20 of 85

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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