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Results: 61 to 80 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cornelia de Lange Syndrome Type 1 , Sequencing NIPBL Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Cornelia de Lange Syndrome Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

PreSeek Non-invasive Prenatal Gene Sequencing Screen

Baylor Genetics
United States
4930
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia de Lange Syndrome NGS panel

Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet
Denmark
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NIPBL Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia de Lange syndrome type 1

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

Cornelia de Lange Syndrome

Asper Biogene Asper Biogene LLC
Estonia
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing NIPBL

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Cohesinopathies (Cornelia de Lange Syndrome)

MGZ Medical Genetics Center
Germany
55
  • C Sequence analysis of the entire coding region

NIPBL Single Gene

Fulgent Genetics
United States
11
  • 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

Cornelia De Lange Syndrome NGS Panel

Fulgent Genetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51274672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short Stature NGS Panel

Fulgent Genetics
United States
2411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1057554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism NGS Panel

Fulgent Genetics
United States
170106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia-de-Lange syndrome 1

MedGene
Slovakia
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia-de-Lange syndrome 1

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 80

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.