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Results: 1 to 20 of 62 (representing 29 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

AllNeuro panel

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

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

DYT5A - DOPA-responsive dystonia

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

DYT5A - DOPA-responsive dystonia

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

GCH1 Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

DRD

Neurogenetics DNA Diagnostic Laboratory Massachusetts General Hospital
United States
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystonia Sequencing panel

PreventionGenetics
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Parkinson Disease Sequencing Panel

PreventionGenetics
United States
1716
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GCH1. Complete sequencing

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

GCH1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

Autosomal Domianant DOPA-Responsive Dystonia via the GCH1 Gene

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

PARKINSON NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
1919
  • C Sequence analysis of the entire coding region

MYOCLONUS DYSTONIA (DYT11)

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY)

Laboratorio de Genetica Clinica SL
Spain
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DYSTONIA, DOPA-RESPONSIVE (DYT5)

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

Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes)

CGC Genetics
Portugal
22
  • D Deletion/duplication analysis

Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes)

CGC Genetics
Portugal
22
  • D Deletion/duplication analysis

Results: 1 to 20 of 62

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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