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Results: 21 to 40 of 73

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene

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

Early Infantile Epileptic Encephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
144124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuronal Ceroid Lipofuscinoses (Batten Disease) Panel

PreventionGenetics, part of Exact Sciences
United States
1513
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Neuromuscular diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
17248
  • C Sequence analysis of the entire coding region

Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes.

Genologica Medica
Spain
175102
  • C Sequence analysis of the entire coding region

Macular dystrophy panel. NGS panel of 26 genes.

Genologica Medica
Spain
5026
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Neuronal ceroid lipofuscinosis and progressive myoclonic epilepsy panel. 31-gene NGS panel.

Genologica Medica
Spain
4631
  • C Sequence analysis of the entire coding region

Nöronal Ceroid Lipofuscinosis (NCL) Genetic Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
1615
  • C Sequence analysis of the entire coding region

Seroid Lipofuccinosis (Neuronal 7)

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • C Sequence analysis of the entire coding region

MFSD8-Related Neuronal Ceroid-Lipofuscinosis

Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
New Zealand
11
  • T Targeted variant analysis

Horizon 274 Male

Natera, Inc.
United States
244254
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Horizon 274 Plus TSE

Natera, Inc.
United States
265274
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13283
  • C Sequence analysis of the entire coding region

Neuronal Ceroid Lipofuscinoses

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
1313
  • C Sequence analysis of the entire coding region

Ceroid lipofuscinoses: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1311
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 73

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.