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Results: 21 to 37 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pontocerebellar hypoplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2018
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis NGS Panel

Fulgent Genetics
United States
17560
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia

Institute of Human Genetics Cologne University
Germany
96
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia , Panel Massive Sequencing (NGS) 8 Genes

Reference Laboratory Genetics
Spain
108
  • C Sequence analysis of the entire coding region

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
318252
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • 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

Pontocerebellar Hypoplasia

MGZ Medical Genetics Center
Germany
58
  • C Sequence analysis of the entire coding region

TSEN2 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly NGS Panel

Fulgent Genetics
United States
32275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebellar Hypoplasia NGS Panel

Fulgent Genetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia NGS Panel

Fulgent Genetics
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 37 of 37

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.