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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NRAS - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • 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

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Noonan Spectrum Disorders/RASopathies Panel

PreventionGenetics, part of Exact Sciences
United States
2923
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

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

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan syndrome 6, 613224, Autosomal dominant; NS6 (Noonan syndrome) (MLPA)

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

Noonan syndrome 6, 613224, Autosomal dominant; NS6 (Noonan syndrome) (Prenatal) (MLPA)

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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan syndrome core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan syndrome core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Pan Cardiomyopathy Panel

PreventionGenetics, part of Exact Sciences
United States
113106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypertrophic Cardiomyopathy Panel

PreventionGenetics, part of Exact Sciences
United States
6660
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 31

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.