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Results: 1 to 20 of 36 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

Comprehensive pulmonary disease panel

Centogene AG - the Rare Disease Company
Germany
5766
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak syndrome type 3

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
6964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome Panel (9 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
109
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome via the HPS3 Gene, Exon 1 Deletion

PreventionGenetics
United States
11
  • T Targeted variant analysis

Hermansky-Pudlak Syndrome (HPS) Sequencing Panel

PreventionGenetics
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bleeding Disorders Sequencing Panel

PreventionGenetics
United States
5561
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Platelet Function Disorder Sequencing Panel

PreventionGenetics
United States
1822
  • 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

Hermansky-Pudlak Syndrome Type 3 (HPS3) via the HPS3 Gene

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

Hermansky-Pudlak Syndrome 3 - HSP3 Targeted Mutations

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • E Sequence analysis of select exons

Albinism Panel

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

Bone Marrow Failure Syndrome Panel

Blueprint Genetics
Finland
193
  • 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

Bleeding Disorder/Coagulopathy Panel

Blueprint Genetics
Finland
754
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet Function Disorder Panel

Blueprint Genetics
Finland
418
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet Disorders

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
1255
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 36

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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