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Results: 21 to 32 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

Rothmund-Thomson Syndrome: RECQL4 Gene Sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Rothmund-Thomson Syndrome: RECQL4 Gene Deletion/Duplication

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • D Deletion/duplication analysis

ROTHMUND-THOMSON SYNDROME TYPE 2

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Blueprint Genetics
Finland
14146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae RECQL4-Related Disorders Test

Labcorp Genetics (formerly Invitae) LabCorp
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LRRC14 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sarcoma Comprehensive Panel

Fulgent Genetics
United States
7026
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Full Comprehensive Cancer Panel

Fulgent Genetics
United States
329127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rothmund-Thomson syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

RECQL4 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
542178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51244672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 32 of 32

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.