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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Coffin-Siris syndrome Panel

Genetic Services Laboratory University of Chicago
United States
715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMARCE1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer + RNA Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14263
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
247161
  • D Deletion/duplication analysis

Congenital Diaphragmatic Hernia Panel

PreventionGenetics, part of Exact Sciences
United States
11665
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Coffin-Siris syndrome 5, 616938, Autosomal dominant; CSS5 (Coffin-Siris syndrome) (SMARCE1 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

Coffin-Siris syndrome 5, 616938, Autosomal dominant; CSS5 (Coffin-Siris syndrome) (SMARCE1 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

Congenital Limb Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
10399
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange Syndrome and 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

Coffin-Siris Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cornelia de Lange Syndrome and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4431
  • D Deletion/duplication analysis

SMARCE1

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

Inherited Cancer Panel

Dhiti Omics Technologies Private Ltd
India
13584
  • C Sequence analysis of the entire coding region

OncoGeneDx Custom Panel

GeneDx
United States
10382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal dominant: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6261
  • C Sequence analysis of the entire coding region

Coffin-Siris syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
88
  • C Sequence analysis of the entire coding region

Coffin-Siris Syndrome NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2222
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.