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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

EPHB4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hemorrhagic Telangiectasia (HHT) Panel

PreventionGenetics, part of Exact Sciences
United States
86
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

EPHB4 - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Capillary malformation-arteriovenous malformation: Full gene sequencing panel

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

EPHB4

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Lymphedema Sequencing Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
2925
  • C Sequence analysis of the entire coding region

Vascular Anomalies (VANseq) Expanded Del/Dup Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
5047
  • D Deletion/duplication analysis

Vascular Anomalies (VANseq) Expanded Sequencing Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
5047
  • C Sequence analysis of the entire coding region

Capillary malformation-arteriovenous malformation: Full gene sequencing panel

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

CAPILLARY MALFORMATION - ARTERIOVENOUS MALFORMATION

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Somatic Overgrowth Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
8649
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.