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Results: 1 to 20 of 22 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Tier 2 PCH Panel

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

TSEN34 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • 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

Pontocerebellar hypoplasia type 2C

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

Pontocerebellar Hypoplasia Subtype 2 and Type 4 via the TSEN34 Gene

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

PONTOCEREBELLAR HYPOPLASIA TYPE 2

Laboratorio de Genetica Clinica SL
Spain
33
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
185145
  • C Sequence analysis of the entire coding region

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

TSEN34 - 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

TSEN34

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

Pontocerebellar hypoplasia type 2C (sequence analysis of TSEN34 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Neurology: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
255164
  • C Sequence analysis of the entire coding region

Brain Malformations: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9250
  • C Sequence analysis of the entire coding region

Microcephaly NGS Panel

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

Epilepsy NGS Panel

Fulgent Genetics
United States
597343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebellar Hypoplasia NGS Panel

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

Pontocerebellar Hypoplasia NGS Panel

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

Results: 1 to 20 of 22

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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