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Results: 1 to 20 of 99

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Hemorrhagic Telangiectasia

Impact Genetics Dynacare/LabCorp
Canada
53
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Comprehensive Aortopathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
5448
  • D Deletion/duplication analysis
  • 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

Marfan and Related Conditions Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3730
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

SMAD4

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Common Hereditary Cancer Screening Panel

PreventionGenetics, part of Exact Sciences
United States
9455
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoColon

Centogene AG - the Rare Disease Company
Germany
6733
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer

Centogene AG - the Rare Disease Company
Germany
11468
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
156107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMAD4 - MLPA

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis

SMAD4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14363
  • D Deletion/duplication analysis

Invitae Common Hereditary Cancers + RNA Panel

Invitae
United States
11447
  • D Deletion/duplication analysis

Gastric Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
3619
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CancerNext® 37

Ambry Genetics
United States
7937
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for CancerNext® 37 (+RNAinsight®)

Ambry Genetics
United States
7918
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

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

Variant Resolution Test for Penn Cancer Grant Panel (+RNAinsight®)

Ambry Genetics
United States
7918
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 99

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.