U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 21 to 40 of 101

Tests names and labsConditionsGenes, analytes, and microbesMethods

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Shprintzen-Goldberg craniosynostosis syndrome NGS test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Shprintzen-Goldberg craniosynostosis syndrome Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Shprintzen-Goldberg craniosynostosis syndrome Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TAADNext®

Ambry Genetics
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FBN1 gene sequence and deletion/duplication reflex to TAADNext®

Ambry Genetics
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Aortopathy Comprehensive Panel

Invitae
United States
6029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniofacial Panel

Genetic Services Laboratory University of Chicago
United States
3135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Low Bone Mass Panel (MitomeNGS)

Baylor Genetics
United States
3922
  • C Sequence analysis of the entire coding region

FBN1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
81
  • T Targeted variant analysis

FBN1 Deletion/Duplication Analysis

Baylor Genetics
United States
81
  • D Deletion/duplication analysis

FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Shprintzen-Goldberg Syndrome via the SKI Gene

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

Results: 21 to 40 of 101

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.