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Results: 1 to 20 of 39 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Albinism

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

qCarrier Plus

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

Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Oculocutaneous Albinism Sequencing Panel

PreventionGenetics
United States
1613
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TYRP1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • T Targeted variant analysis

TYRP1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • T Targeted variant analysis

TYRP1 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

Oculocutaneous Albinism Type 3 - TYRP1 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

ALBINISM: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
1313
  • C Sequence analysis of the entire coding region

OCULOCUTANEOUS ALBINISM (OCA)

Laboratorio de Genetica Clinica SL
Spain
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oculocutaneous Albinism Type 3 , Sequencing TYRP1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

OCULOCUTANEOUS ALBINISM

Laboratorio de Genetica Clinica SL
Spain
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Albinisim panel

LifeLabs Genetics
Canada
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Albinism Panel

Blueprint Genetics
Finland
319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome Panel

Blueprint Genetics
Finland
122
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hematology Panel

Blueprint Genetics
Finland
4175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Albinism

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1311
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

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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