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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

Nicolaides-baraitser syndrome testing (SMARCA2)

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

EPISign Whole Genome Methylation Assay

Molecular Genetics Laboratory London Health Sciences Centre
Canada
191
  • M Methylation analysis

SMARCA2 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • E Sequence analysis of select exons

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nicolaides-Baraitser syndrome, 601358, Autosomal dominant; NCBRS (Intellectual disability-sparse hair-brachydactyly syndrome) (SMARCA2 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

Nicolaides-Baraitser syndrome, 601358, Autosomal dominant; NCBRS (Intellectual disability-sparse hair-brachydactyly syndrome) (SMARCA2 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

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

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

Invitae
United States
4431
  • D Deletion/duplication analysis

EpiSign Variant

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

EpiSign Complete

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

Childhood Epilepsy NGS Panel

Fulgent Genetics
United States
354209
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nicolaides-Baraitser Syndrome (SMARCA2 Single Gene Test)

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

Adolescent/Adult Epilepsy NGS Panel

Fulgent Genetics
United States
18282
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Coffin-Siris Syndrome NGS Panel

Fulgent Genetics
United States
8211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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.