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Results: 1 to 20 of 53

Tests names and labsConditionsGenes and analytesMethods

Zellweger syndrome panel

Centogene AG - the Rare Disease Company
Germany
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Zellweger syndrome

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

Peroxisomal Disorders Sequencing Panel

PreventionGenetics
United States
3222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel

DNA Diagnostic Laboratory at Johns Hopkins Johns Hopkins Hospital
United States
716
  • 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

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX12 Gene

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

PEX12. Sequencing of the exons 2 and 3

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

PEX12. Complete sequencing

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

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Zellweger syndrome spectrum, PEX12-related

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Leukodystrophy / Leukoencephalopathy Panel

CeGaT GmbH
Germany
876
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3056447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisomal disorders

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3324
  • 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

Peroxisomal disorders targetted panel

Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
United Kingdom
15
  • C Sequence analysis of the entire coding region

Peroxisome biogenesis disorder 3A

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

Zellweger syndrome

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

Peroxisome biogenesis disorder 3B

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

Zellweger syndrome

Bioarray
Spain
11
  • 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.