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Results: 1 to 14 of 14 (representing 10 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

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

Leukodystrophy hypomyelinating, type 7

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

POLR3A. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Leukodistrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
4658
  • C Sequence analysis of the entire coding region

POLR1C - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
31
  • E Sequence analysis of select exons
  • T Targeted variant analysis

POLR3A - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Leukoencephalopathy - ataxia - hypodontia - hypomyelination

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Leukodystrophy hypomyelinating (NGS panel for 3 genes)

CGC Genetics
Portugal
33
  • C Sequence analysis of the entire coding region

Single gene testing POLR3A

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

Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene)

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

POLR3A

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

POLR3B

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

POLR3-related (4H) leukodystrophy

Pediatric Neurodegenerative Laboratory Montreal Children's Hospital Research Institute
Canada
33
  • C Sequence analysis of the entire coding region

POLIII- Related Leukodystrophies

Molecular Diagnostics Lab Nemours A. I. duPont Hospital for Children
United States
12
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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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