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Results: 1 to 20 of 33 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene

PreventionGenetics
United States
21
  • 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

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

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • 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

Invitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel

Invitae
United States
139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
156125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Epileptic Encephalopathy NGS Panel

Fulgent Genetics
United States
1006133
  • 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 CLN6

CeGaT GmbH
Germany
21
  • 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

Results: 1 to 20 of 33

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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