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Results: 21 to 38 of 38

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

Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes

Reference Laboratory Genetics
Spain
2218
  • C Sequence analysis of the entire coding region

Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes

Reference Laboratory Genetics
Spain
3325
  • C Sequence analysis of the entire coding region

Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes

Reference Laboratory Genetics
Spain
98
  • C Sequence analysis of the entire coding region

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes

Reference Laboratory Genetics
Spain
12690
  • C Sequence analysis of the entire coding region

ROTHMUND-THOMSON SYNDROME TYPE 2

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

Rothmund-Thomson Syndrome , Sequencing RECQL4 Gene

Reference Laboratory Genetics
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

Invitae
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

Cancer Predisposition

Asper Biogene Asper Biogene LLC
Estonia
13598
  • D Deletion/duplication analysis
  • 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
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 38 of 38

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.