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Results: 1 to 20 of 28 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Neuronal Ceroid-Lipofuscinoses Panel

Genetic Services Laboratory University of Chicago
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7850
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Ceroid lipofuscinosis, neuronal, 4, Parry type

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

Neuronal Ceroid Lipofuscinosis 4 via the DNAJC5 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel

PreventionGenetics
United States
1513
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuronal Ceroid Lipofuscinosis (NCL)/Batten Disease Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
1913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myoclonic Seizures A (Progressive) Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Ceroid-Lipofuscinoses

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1513
  • C Sequence analysis of the entire coding region

NCLNext

Ambry Genetics
United States
1913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal ceroid lipofuscinosis (NGS panel for 9 genes)

CGC Genetics
Portugal
119
  • C Sequence analysis of the entire coding region

Single gene testing DNAJC5

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

epiSEEK® Focus Epilepsy Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
10175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal ceroid lipofuscinosis panel

Molecular Vision Laboratory
United States
129
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372287
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Neuronal Ceroidlipofuscinosis (NCL) Panel

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

Ceroid lipofuscinosis neuronal type 4 (sequence analysis of DNAJC5 gene)

CGC Genetics
Portugal
11
  • 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

Epilepsy Advanced Sequencing Evaluation - Neuronal Ceroid Lipofuscinosis

Athena Diagnostics Inc
United States
1010
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
143141
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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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