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Results: 1 to 20 of 62

Tests names and labsConditionsGenes, analytes, and microbesMethods

CM-AVM SYNDROME

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

RASA1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae RASopathies and Noonan Spectrum Disorders Panel

Invitae
United States
6028
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
345159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Overgrowth Syndromes Panel

Invitae
United States
9653
  • 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

Capillary malformation-arteriovenous malformation, 608354, Autosomal dominant; CMAVM (Capillary malformation-arteriovenous malformation syndrome) (RASA1 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

Capillary malformation-arteriovenous malformation, 608354, Autosomal dominant; CMAVM (Capillary malformation-arteriovenous malformation syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

PulmZoom

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

Capillary malformation arteriovenous malformation Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Capillary malformation arteriovenous malformation Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Capillary malformation arteriovenous malformation NGS Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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 Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel

Invitae
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardiomyopathy Comprehensive Panel

Invitae
United States
19882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 62

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.