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Results: 1 to 20 of 59

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

NIPBL deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

NIPBL sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

NIPBL mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
21
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Cornelia de Lange syndrome type 1

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

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
3342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Facial Dysostosis Related Disorders NextGen Sequencing (NGS) Panel

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

Cornelia de Lange Syndrome Sequencing Panel

PreventionGenetics
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NIPBL. MLPA testing

Instituto de Medicina Genomica
Spain
31
  • D Deletion/duplication analysis

SMC1A. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

NIPBL, SMC1A, SMC3. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
33
  • C Sequence analysis of the entire coding region

NIPBL. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

SMC3. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

Cornelia de Lange Syndrome via the NIPBL Gene

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

Invitae Cornelia de Lange Syndrome Panel

Invitae
United States
65
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia de Lange syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
55
  • C Sequence analysis of the entire coding region

Cornelia de Lange syndrome: NIPBL gene deletions-duplications analysis (MLPA)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • D Deletion/duplication analysis

Cornelia de Lange Syndrome NGS panel

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 59

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.