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Results: 1 to 19 of 19

Tests names and labsConditionsGenes and analytesMethods

Cerebral Cortical Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
2326
  • D Deletion/duplication analysis

Baraitser Winter syndrome sequencing panel

Genetic Services Laboratory University of Chicago
United States
12
  • C Sequence analysis of the entire coding region

Comprehensive Lissencephaly Panel

Genetic Services Laboratory University of Chicago
United States
1834
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Baraitser-Winter syndrome 2

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

Cerebral Cortical Malformation Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
5553
  • C Sequence analysis of the entire coding region

Deafness, Autosomal Dominant 20 (DFNA20) via the ACTG1 Gene

PreventionGenetics
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ACTG1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

OtoGenome Test for Hearing Loss (87 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
11286
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS Hearing Loss Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10285
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders Panel

CeGaT GmbH
Germany
3250
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders Panel

CeGaT GmbH
Germany
3250
  • C Sequence analysis of the entire coding region

ACTG1

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurology: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
256164
  • C Sequence analysis of the entire coding region

Hearing Loss: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
15992
  • C Sequence analysis of the entire coding region

Brain Malformations: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
9350
  • C Sequence analysis of the entire coding region

Hearing Loss NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
202103
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lissencephaly NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
5014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Test for Baraitser-Winter Syndrome 2

All Wales Genetics Laboratory Institute of Medical Genetics
United Kingdom
11
  • C Sequence analysis of the entire coding region

Baraitser-Winter Syndrome 2

Bioscientia GmbH Center for Human Genetics
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.