Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 44 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

LADD syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LADD syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Facial Dysostosis Related Disorders Sequencing Panel

PreventionGenetics
United States
3319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis and Related Disorders Sequencing Panel

PreventionGenetics
United States
195
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
207
  • C Sequence analysis of the entire coding region

Achondroplasia Mutation Panel

Baylor Miraca Genetics Laboratories
United States
121
  • S Mutation scanning of the entire coding region

Skeletal Dysplasia Panel

Insight Medical Genetics
United States
278
  • X Mutation scanning of select exons

FGFR2-Related Disorders via the FGFR2 Gene

PreventionGenetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR2-Related disorders - Del/Dup Analysis

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
111
  • D Deletion/duplication analysis

FGFR2-Related disorders - Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
111
  • C Sequence analysis of the entire coding region

Craniosynostosis

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
6626
  • C Sequence analysis of the entire coding region

FGFR3 - Gene sequencing

Genera
Brazil
81
  • C Sequence analysis of the entire coding region

Fibroblast Growth Factor Receptor 2 (FGFR2)-related Disorders Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
121
  • C Sequence analysis of the entire coding region

Invitae FGFR3-Related Disorders Test

Invitae
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypospadias Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
7361
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromes with immunodeficiency Panel

CeGaT GmbH
Germany
3338
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with skeletal involvement Panel

CeGaT GmbH
Germany
3642
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 44

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.

Support Center