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Results: 1 to 20 of 90

Tests names and labsConditionsGenes, analytes, and microbesMethods

NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication

Medical Genomics Laboratory Department of Genetics UAB
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Syndrome and Related Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1520
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RASopathy NGS Panel

Medical Genomics Laboratory Department of Genetics UAB
United States
818
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

Non-NF1 RASopathy NGS Panel

Medical Genomics Laboratory Department of Genetics UAB
United States
717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rasopathies NGS Panel

Health in Code
Spain
2612
  • 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

NEUROFIBROMATOSIS TYPE 1 - NF1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
22
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

LEGIUS SYNDROME - SPRED1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
22
  • D Deletion/duplication analysis
  • L Linkage analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

SPRED1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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 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

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

Neurofibromatosis and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
36
  • 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

Neurofibromatosis and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
36
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neurofibromatosis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
36
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Legius syndrome, 611431, Autosomal dominant (Legius syndrome) (MLPA)

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

Results: 1 to 20 of 90

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.