U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 21 to 40 of 95

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

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

Legius syndrome, 611431, Autosomal dominant (Legius syndrome) (SPRED1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Biopsy-based NF1 analysis with reflex to SPRED1, if needed

Medical Genomics Laboratory Department of Genetics UAB
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RNA-based NF1 and SPRED1 Comprehensive Testing

Medical Genomics Laboratory Department of Genetics UAB
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SPRED1 gene sequence and deletion/duplication

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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 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

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

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

Neurofibromatosis Type 1 and Legius Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cardiomyopathy Comprehensive Panel

Invitae
United States
19882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

Invitae
United States
239100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Legius Syndrome via the SPRED1 Gene

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

SPRED1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • D Deletion/duplication analysis

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 95

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.