Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 64 (representing 26 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 5

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
329300
  • 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

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 5 via the CLN5 Gene

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

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

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

CLN5 single gene sequencing

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 64

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.

Support Center