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Results: 1 to 20 of 31

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Major histocompatibility comples 1 deficiency

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

Paroxysmal nonkinesigenic dyskinesia

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

Comprehensive Neurogenetics Panel (359 genes)

Sherbrooke Genomic Medicine
Canada
6035
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

PNKD. Detection of the mutations p.Ala7Val, p.Ala9Val and p.Ala33Pro by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

PNKD. Complete sequencing

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

MR1. 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
845637
  • D Deletion/duplication analysis

Paroxysmal Nonkinesigenic Dyskinesia (DYT8) Testing via the PNKD Gene

PreventionGenetics
United States
11
  • 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

AAMP

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3053447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset Epileptic Encephalopathy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
1006133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Idiopathic Generalized Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
106889
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Essential Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
79371
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paroxysmal non-kinesigenic dyskinesia: PNKD gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Dystonia

Asper Biotech Asper Biotech Ltd.
Estonia
1111
  • C Sequence analysis of the entire coding region

Paroxysmal non-kinesigenic dyskinesia

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

Paroxysmal nonkinesigenic dyskinesia 1 (sequence analysis of PNKD gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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.