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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skin and Connective Tissue Disorders Panel

PreventionGenetics
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Xeroderma pigmentosum Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma pigmentosum NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma pigmentosum Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma Pigmentosum Panel

PreventionGenetics
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma Pigmentosum via the ERCC5 Gene

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

Results: 1 to 9 of 9

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.