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Results: 1 to 20 of 68 (representing 29 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 type 8

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

CLN8

Neurogenetics DNA Diagnostic Laboratory Massachusetts General Hospital
United States
21
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

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

Early Infantile Epileptic Encephalopathy Sequencing Panel

PreventionGenetics
United States
8280
  • 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

Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel

PreventionGenetics
United States
4240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CLN5. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

CLN8. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

TPP1. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

CLN6. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

CTSD. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

MFSD8. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

PPT1. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

CLN3. Complete sequencing

Instituto de Medicina Genomica
Spain
81
  • C Sequence analysis of the entire coding region

Neuronal Ceroid Lipofuscinosis 8 via the CLN8 Gene

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

nucSEEK® 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

Neuronal Ceroid Lipofuscinoses, Panel Deletions-Duplications (MLPA) TPP1, PPT1, CLN3, CLN6, CLN8 Genes

Reference Laboratory Genetics
Spain
75
  • D Deletion/duplication analysis

Results: 1 to 20 of 68

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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