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Results: 1 to 20 of 1260

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ehlers-Danlos syndrome, classic type Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal hereditary motor neuropathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple exostoses NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chondrodysplasia punctata and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple pterygium syndrome, lethal type NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
73
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nephrolithiasis and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fibrochondrogenesis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome, type I / II Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypotrichosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1010
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth disease Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cantu syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb girdle muscular dystrophy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephrotic syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2732
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 1260

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.