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Results: 1 to 20 of 46

Tests names and labsConditionsGenes and analytesMethods

Cerebrotendinous xanthomatosis

Lipid-Atherosclerosis and Sterols Analysis Lab Oregon Health and Science University
United States
11
  • A Analyte

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Cerebrotendinous xanthomatosis

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

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection

PreventionGenetics
United States
143156
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

CerebroTendinous Xanthomatosis (CTX) via CYP27A1 Gene Sequencing with CNV Detection

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

CYP27A1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
844637
  • D Deletion/duplication analysis

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
4160
  • C Sequence analysis of the entire coding region

Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes

Reference Laboratory Genetics
Spain
6056
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies

Athena Diagnostics Inc
United States
8084
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CEREBROTENDINOUS XANTHOMATOSIS

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Cerebrotendinous Xanthomatosis , Sequencing CYP27A1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebrotendinous Xanthomatosis Test

Invitae
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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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