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Results: 61 to 80 of 83

Tests names and labsConditionsGenes, analytes, and microbesMethods

NEURONAL CEROID LIPOFUSCINOSIS

Laboratorio de Genetica Clinica SL
Spain
99
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
143135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CLN6 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

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ceroid lipofuscinosis, neuronal, 6

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Ceroid lipofuscinosis, neuronal, 6

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7475
  • C Sequence analysis of the entire coding region

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

Single gene testing CLN6

CeGaT GmbH
Germany
21
  • 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
379287
  • C Sequence analysis of the entire coding region

Neuronal Ceroidlipofuscinosis (NCL) Panel

CeGaT GmbH
Germany
2413
  • C Sequence analysis of the entire coding region

CLN6 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Ceroid Lipofuscinosis NGS Panel

Fulgent Genetics
United States
3114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukoencephalopathy NGS Panel

Fulgent Genetics
United States
16970
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic disease with epilepsy panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2924
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 83

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.