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Results: 1 to 20 of 40 (representing 20 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 7

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes)

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

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

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

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

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HERMANSKY-PUDLAK SYNDROME: NGS PANEL-

Laboratorio de Genetica Clinica SL
Spain
99
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak and Pulmonary Fibrosis Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2325
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
9293
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome Type 7 , Sequencing DTNBP1 Gene

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

HERMANSKY-PUDLAK SYNDROME

Laboratorio de Genetica Clinica SL
Spain
19
  • C Sequence analysis of the entire coding region

DTNBP1 single gene sequencing

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Results: 1 to 20 of 40

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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