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Results: 1 to 20 of 106 (representing 42 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Rasopathies NGS Panel

Health in Code S.L.
Spain
2612
  • C Sequence analysis of the entire coding region

Expanded RASopathy Panel (14 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
2114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan syndrome type 1

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

PTPN11 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
51
  • C Sequence analysis of the entire coding region

Pan Cardiomyopathy Panel (62 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
10361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCM Panel (20 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
4220
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
9853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PTPN11-related Noonan Syndrome

Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
Chile
11
  • E Sequence analysis of select exons

PTPN11-related Noonan Syndrome

Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
Chile
11
  • E Sequence analysis of select exons

Noonan syndrome

Ambry Genetics
United States
14
  • C Sequence analysis of the entire coding region

PTPN11-Related Noonan syndrome

ChildLab Molecular Genetics Laboratory Nationwide Children's Hospital
United States
11
  • C Sequence analysis of the entire coding region

Comprehensive Cardiology Sequencing Panel

PreventionGenetics
United States
190164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Fetal and Neonatal Loss Panel

PreventionGenetics
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fetal Concerns Sequencing Panel

PreventionGenetics
United States
3840
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aortic diseases Panel

Health in Code S.L.
Spain
7135
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code S.L.
Spain
6030
  • C Sequence analysis of the entire coding region

PTPN11, RAF1, SOS1, KRAS, BRAF. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
44
  • C Sequence analysis of the entire coding region

KRAS. Complete sequencing

Instituto de Medicina Genomica
Spain
61
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 106

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.

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