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Results: 1 to 20 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

RASopathies Panel

Health in Code
Spain
118
  • C Sequence analysis of the entire coding region

Cardiomyopathies General Panel

Health in Code
Spain
1173
  • C Sequence analysis of the entire coding region

Arrhythmia General Panel

Health in Code
Spain
1218
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code
Spain
1380
  • C Sequence analysis of the entire coding region

NOONAN SYNDROME

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
516
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

RASOPATHY-RELATED SYNDROME

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
919
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • 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

Noonan spectrum disorder Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan spectrum disorder Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan spectrum disorder NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan spectrum disorder NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan spectrum disorder Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan spectrum disorder Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

A2ML1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Noonan and RASopathies Panel  

CGC Genetics Unilabs
Portugal
134
  • C Sequence analysis of the entire coding region

Clinically Recognized Syndromes Panel

Mendelics
Brazil
1236
  • C Sequence analysis of the entire coding region

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 56

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.