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Results: 1 to 20 of 20

Tests names and labsConditionsGenes and analytesMethods

RAPADILINO syndrome

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

Rothmund Thomson Syndrome via the RECQL4 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chromosomal Instability Syndromes Sequencing Panel

PreventionGenetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis

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

RAPADILINO SYNDROME

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

Invitae Pediatric Solid Tumors Panel

Invitae
United States
9148
  • 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

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

MFSD3

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sarcoma Comprehensive Panel

Fulgent Genetics
United States
91526
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cancer Panel

Fulgent Genetics
United States
1724124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosysostosis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2219
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer Panel

Invitae
United States
14080
  • D Deletion/duplication analysis
  • 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

RECQL4

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
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RECQL4

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Limb Malformation: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
12146
  • C Sequence analysis of the entire coding region

Hereditary Cancer NGS Panel

Fulgent Genetics
United States
256112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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