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Results: 1 to 20 of 53 (representing 20 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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Early infantile epileptic encephalopathy type 10

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

PNKP deletion/duplication analysis

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

PNKP sequencing

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

Epilepsy Panel - Comprehensive

Molecular Genetics Laboratory London Health Sciences Centre
Canada
6969
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Microcephaly, Seizures and Developmental Delay via the PNKP Gene

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

Epilepsy: Ohtahara Syndrome Sequencing Panel

PreventionGenetics
United States
99
  • 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

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

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

Brain malformations

Asper Biotech Asper Biotech Ltd.
Estonia
185145
  • C Sequence analysis of the entire coding region

Angelman/ Rett Seq + Del/Dup

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHOP Epilepsy Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
9189
  • C Sequence analysis of the entire coding region

Angelman/Rett Del/Dup

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1717
  • D Deletion/duplication analysis

Angelman/Rett Seq

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1718
  • C Sequence analysis of the entire coding region

Invitae Early Infantile Epileptic Encephalopathy Panel

Invitae
United States
7449
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
156125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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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