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Results: 81 to 94 of 94

Tests names and labsConditionsGenes, analytes, and microbesMethods

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Neuronal Ceroidlipofuscinosis (NCL) Panel

CeGaT GmbH
Germany
2413
  • C Sequence analysis of the entire coding region

TPP1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51274672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Ceroid Lipofuscinosis NGS Panel

Fulgent Genetics
United States
3114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1057554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic disease with epilepsy panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2924
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal ceroid lipofuscinosis type 2 (LINCL)

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

TPP1-Related Neuronal Ceroid-Lipofuscinosis

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

Test for TPP1-Related Neuronal Ceroid-Lipofuscinosis

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuronal Ceroid Lipofuscinoses

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • T Targeted variant analysis

Results: 81 to 94 of 94

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.