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Results: 1 to 20 of 27 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
299280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
716
  • D Deletion/duplication analysis
  • 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

Invitae Zellweger Spectrum Disorder Panel

Invitae
United States
3115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
3322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Zellweger Syndrome Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peroxisomal Disorders Panel

Blueprint Genetics
Finland
418
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • 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

Zellweger Syndrome Spectrum, PEX1-Related, includes Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, and Zellweger Syndrome (PEX1)

Integrated Genetics Westborough Integrated Genetics
United States
31
  • C Sequence analysis of the entire coding region

Peroxisome biogenesis disorder 3B

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

Single gene testing PEX12

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Refsum Disease Panel

CeGaT GmbH
Germany
27
  • C Sequence analysis of the entire coding region

PEX12

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

Peroxisomal Disorders Comprehensive NGS Panel

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
1724
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Neonatal and Adult Cholestasis: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9957
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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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