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Results: 1 to 20 of 38 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Microcephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
6478
  • C Sequence analysis of the entire coding region

ARFGEF2

Amplexa Genetics Amplexa Genetics A/S
Denmark
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Periventricular heterotopia with microcephaly

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
5453
  • C Sequence analysis of the entire coding region

ARFGEF2 sequencing

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

Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy Sequencing Panel

PreventionGenetics
United States
8280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel

PreventionGenetics
United States
4240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
4258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autosomal Recessive Primary Microcephaly Tier 2 panel

Genetic Services Laboratory University of Chicago
United States
224
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain Malformation Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infantile Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3018
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorder Panel

Blueprint Genetics
Finland
147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Brain Malformation Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
36106
  • 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

Early-Onset Epileptic Encephalopathy NGS Panel

Fulgent Genetics
United States
1006133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Epilepsy/Seizure Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
96145
  • C Sequence analysis of the entire coding region

Single gene testing ARFGEF2

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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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