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Results: 21 to 40 of 107

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hermansky-Pudlak syndrome 6, 614075; HPS6 (Hermansky-Pudlak syndrome without pulmonary fibrosis) (HPS6 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Platelet Function Disorder Panel

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

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • 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
552424
  • 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 6 (HPS6) via the HPS6 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

HPS6 Gene Sequencing (2 day STAT TAT)

Machaon Diagnostics
United States
11
  • E Sequence analysis of select exons

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
165
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 107

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.