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Results: 21 to 40 of 100

Tests names and labsConditionsGenes, analytes, and microbesMethods

Platelet Function Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome

Amplexa Genetics Amplexa Genetics A/S
Denmark
19
  • S Mutation scanning of the entire coding region

Hermansky-Pudlak syndrome panel

Amplexa Genetics Amplexa Genetics A/S
Denmark
18
  • S Mutation scanning of the entire coding region

Albinism

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

Platelet bleeding disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Platelet bleeding disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet bleeding disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
603446
  • D Deletion/duplication analysis

Oculocutaneous Albinism and Hypopigmentation Panel

PreventionGenetics, part of Exact Sciences
United States
2431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hermansky-Pudlak Syndrome (HPS) Panel

PreventionGenetics, part of Exact Sciences
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bleeding Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
7879
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Platelet Function Disorder Panel

PreventionGenetics, part of Exact Sciences
United States
2326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hermansky-Pudlak Syndrome Type 7 (HPS7) via the DTNBP1 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak syndrome and differential diagnosis (WES based NGS panel of 17 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
117
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Bleeding Disorders Panel 

CGC Genetics Unilabs
Portugal
1121
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Syndrome Panel 

CGC Genetics Unilabs
Portugal
1175
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Lung Disorders Panel 

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 100

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.