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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

EIF2AK4 - NGS including CNV analysis

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

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary venoocclusive disease 2, 234810, Autosomal recessive; PVOD2 (Pulmonary capillary hemangiomatosis) (EIF2AK4 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

Pulmonary Arterial Hypertension (PAH) Panel

PreventionGenetics, part of Exact Sciences
United States
1011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
163128
  • C Sequence analysis of the entire coding region

Vascular malformations Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vascular malformations NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vascular malformations Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pulmonary Arterial Hypertension Panel

Invitae
United States
1512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vascular Malformations Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2428
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary venoocclusive disease 2 (sequence analysis of EIF2AK4 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Congenital structural heart disease panel. NGS panel of 62 genes.

Genologica Medica
Spain
11362
  • C Sequence analysis of the entire coding region

Pulmonary arterial hypertension panel. 12-gene NGS panel.

Genologica Medica
Spain
1912
  • C Sequence analysis of the entire coding region

EIF2AK4 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Pulmonary Hypertension Panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
1313
  • C Sequence analysis of the entire coding region

Comprehensive lung panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
6466
  • C Sequence analysis of the entire coding region

Pulmonary venoocclusive disease: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Pulmonary Arterial Hypertension NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2022
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
123124
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary-Vascular Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
10086
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.