U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

PRSS1 - Sanger sequencing

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

HHT and Vascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
712
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebrovascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Endeavor

PathGroup
United States
73505
  • 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

Hydrops fetalis, nonimmune, and/or atrial septal defect, 617300, Autosomal dominant (EPHB4 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

Hydrops fetalis, nonimmune, and/or atrial septal defect, 617300, Autosomal dominant (EPHB4 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

HHTNext®

Ambry Genetics
United States
106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Capillary Malformation-Arteriovenous Malformation NGS Panel

UAB Medical Genomics Laboratory UAB Medicine
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

EPHB4 - Genetic Analysis

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

Vascular Anomalies Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
165
  • C Sequence analysis of the entire coding region

GeneVa

Laboratory for Molecular Pediatric Pathology Boston Children's Hospital
United States
135
  • T Targeted variant analysis

Lymphedema hereditary (WES based NGS panel of 22 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
122
  • C Sequence analysis of the entire coding region

Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
135
  • C Sequence analysis of the entire coding region

Cerebral vascular malformations (WES based NGS panel of 30 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
130
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 43

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.