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Results: 1 to 20 of 61

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 Center
Canada
7850
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ceroid lipofuscinosis, neuronal type 7

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

Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene

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

Early Infantile Epileptic Encephalopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
6664
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuronal Ceroid Lipofuscinoses (Batten Disease) NextGen Sequencing (NGS) 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 NextGen Sequencing (NGS) panel

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

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

MFSD8. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • 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

nucSEEKĀ® 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

Invitae Neuronal Ceroid Lipofuscinoses Panel

Invitae
United States
1310
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
111103
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 61

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.