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Results: 1 to 15 of 15

Tests names and labsConditionsGenes and analytesMethods

Rett/Angelman Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2123
  • C Sequence analysis of the entire coding region

Rett/Angelman Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1920
  • D Deletion/duplication analysis

CNTNAP2 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

CNTNAP2 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CustomNext-Epilepsy

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

Rett/Atypical Rett/Angelman

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
2716
  • 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

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

epiSEEKĀ® Focus Epilepsy Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
10175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epileptic Encephalopathy Panel

CeGaT GmbH
Germany
2577
  • C Sequence analysis of the entire coding region

CNTNAP2-Related Disorders: CNTNAP2 Gene Deletion/Duplication

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
21
  • D Deletion/duplication analysis

CNTNAP2-Related Disorders: CNTNAP2 Gene Sequencing

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
21
  • C Sequence analysis of the entire coding region

Rett/AngelmanNext

Ambry Genetics
United States
3122
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/Intellectual Disability/Multiple Anomalies

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
11389
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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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