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Results: 1 to 20 of 38 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

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

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

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

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHOP Epilepsy Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
9189
  • 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

CustomNext-Epilepsy

Ambry Genetics
United States
10572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Neuronal Ceroid-Lipofuscinoses

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

PMENext

Ambry Genetics
United States
2021
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
16085
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 38

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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