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Results: 1 to 20 of 29 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

HDAC8 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
31
  • C Sequence analysis of the entire coding region

SMC1A deletion/duplication analysis

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

SMC1A 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

SMC1A mutation analysis

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

Cornelia de Lange syndrome type 2

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

Cornelia de Lange syndrome (CdLS)

Ambry Genetics
United States
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Epilepsy

Ambry Genetics
United States
10572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cornelia de Lange Syndrome Panel

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

TAF6

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KMT2A

Fulgent Genetics
United States
381
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Idiopathic Generalized Epilepsy NGS Panel

Fulgent Genetics
United States
106789
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
16085
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AutismFirst

Ambry Genetics
United States
2116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext

Ambry Genetics
United States
12140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
105196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AutismNext

Ambry Genetics
United States
5348
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HDAC8 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

RAD21 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.

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