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Results: 21 to 40 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

Polydactyly and Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange syndrome 2, 300590, X-linked dominant; CDLS2 (Cornelia de Lange syndrome) (SMC1A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cornelia de Lange syndrome 2, 300590, X-linked dominant; CDLS2 (Cornelia de Lange syndrome) (SMC1A gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Syndactyly Panel

PreventionGenetics, Part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, Part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qChip 180

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

Cornelia de Lange syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia de Lange syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
4342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cornelia de Lange Syndrome and Related Disorders Panel

Invitae
United States
4431
  • D Deletion/duplication analysis

X-Linked Intellectual Disability Panel

PreventionGenetics, Part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Facial Dysostosis Related Disorders Panel

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

Cornelia de Lange Syndrome Panel

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

Early Infantile Epileptic Encephalopathy Panel

PreventionGenetics, Part of Exact Sciences
United States
144124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange Syndrome via the SMC1A 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

SMC1A

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Limb malformation panel. NGS panel of 45 genes.

Genologica Medica
Spain
7745
  • C Sequence analysis of the entire coding region

Results: 21 to 40 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.