Filters

See more specimen types...

Other countries

Results: 1 to 20 of 21

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Tier 2 PCH Panel

Genetic Services Laboratory University of Chicago
United States
22
  • C Sequence analysis of the entire coding region

TSEN2 sequencing

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

Pontocerebellar hypoplasia type 2B

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia Type 2 and Type 4 via the TSEN2 Gene

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

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

TSEN2 - Gene sequencing

Clinical Genetics Academic Medical Center
Netherlands
11
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia

Medizinisch Genetisches Zentrum München MGZ München
Germany
58
  • C Sequence analysis of the entire coding region

TSEN2

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pontocerebellar hypoplasia type 2B (sequence analysis of TSEN2 gene)

CGC Genetics
Portugal
11
  • 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

Brain Malformations: Sequencing Panel

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

Microcephaly NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
5235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
598343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebellar Hypoplasia NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
631431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.