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Results: 1 to 20 of 31 (representing 18 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

Neurogenetics DNA Diagnostic Laboratory Massachusetts General Hospital
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
300280
  • 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

Laboratorio de Genetica Clinica SL
Spain
99
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

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

epiSEEKĀ® 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

Results: 1 to 20 of 31

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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