U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 65

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Supplemental Metabolic Newborn Screening Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Comprehensive panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome NGS panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome, progeroid type, Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome, progeroid type, Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome, progeroid type, NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome with short stature and limb anomalies, 130070, Autosomal recessive; EDSSLA (Ehlers-Danlos syndrome, progeroid type) (B4GALT7 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

Connective tissue disorder NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeroid syndromes and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeroid syndromes and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progeroid syndromes and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome NGS panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 65

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.