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Results: 1 to 20 of 51

Tests names and labsConditionsGenes and analytesMethods

Rasopathies NGS Panel

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

Expanded RASopathy Panel (14 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2114
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia

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

Noonan spectrum disorder NGS panel

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

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

Noonan spectrum disorder Comprehensive panel

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

Comprehensive Cardiology Sequencing Panel with CNV Detection

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

Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection

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

Juvenile Myelomonocytic Leukemia

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

CBL-Related Disorders via the CBL Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Genetic Services Laboratory University of Chicago
United States
1013
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
1311
  • C Sequence analysis of the entire coding region

CBL. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Noonan Syndrome Panel

Insight Medical Genetics
United States
1612
  • C Sequence analysis of the entire coding region

Noonan Spectrum Disorders/Rasopathies Sequencing Panel

PreventionGenetics
United States
2115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Noonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes

Reference Laboratory Genetics
Spain
1612
  • C Sequence analysis of the entire coding region

Comprehensive Cardiac Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
174107
  • C Sequence analysis of the entire coding region

Noonan-Like Syndrome with or without Juvenile Myelomonocytic Leukemia , Sequencing CBL Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 51

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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