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Results: 1 to 20 of 66 (representing 31 labs)

Tests names and labsConditionsGenes and analytesMethods

Expanded RASopathy Panel (14 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2114
  • 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

Noonan Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
112
  • D Deletion/duplication analysis

RASopathy Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
815
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cardiomyopathy Exome Panel

Northwest Clinical Genomics Laboratory University of Washington
United States
3275
  • C Sequence analysis of the entire coding region

Juvenile Myelomonocytic Leukemia

UCSF Molecular Diagnostics Laboratory University of California, San Francisco
United States
59
  • C Sequence analysis of the entire coding region

NOONAN SYNDROME

Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute
Spain
516
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

RASOPATHY-RELATED SYNDROME

Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute
Spain
919
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel

Genetic Services Laboratory University of Chicago
United States
1114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Spectrum Panel

Heart Institute Diagnostic Lab Cincinnati Children's Hospital Medical Center
United States
412
  • S Mutation scanning of the entire coding region

Noonan Syndrome Panel

Insight Medical Genetics
United States
94
  • E Sequence analysis of select exons

RAF1 targeted Exons sequencing (Exs 7, 14, 17)

Michigan Medical Genetics Laboratories University of Michigan
United States
41
  • E Sequence analysis of select exons

Noonan syndrome/RASopathy Disorders Panel

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
511
  • C Sequence analysis of the entire coding region

RAF1-Related Noonan/LEOPARD Syndrome

Ambry Genetics
United States
21
  • E Sequence analysis of select exons

PTPN11-Related Noonan/LEOPARD Syndrome

Ambry Genetics
United States
21
  • C Sequence analysis of the entire coding region

Cardiomyopathy Panel

Blueprint Genetics
Finland
6134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiology Panel

Blueprint Genetics
Finland
12165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Syndrome Panel

Blueprint Genetics
Finland
419
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
113
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 66

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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