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Results: 1 to 20 of 48 (representing 24 labs)

Tests names and labsConditionsGenes and analytesMethods

Rapid microarray (CGH and SNP)

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

Albinism, oculocutaneous type II

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

Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • 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

OCA2 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OCA2. Complete sequencing

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

OCA2. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

OCA2 Targeted Deletion Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

OCA2 Targeted Deletion Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

OCA2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

OCA2 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

OCA2 Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region

Oculocutaneous Albinism Type 2 (OCA2) via the OCA2 Gene

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Oculocutaneous Albinism Type 2 - OCA2 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • T Targeted variant analysis

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

Results: 1 to 20 of 48

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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