U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

XPR1 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Parkinson Disease Panel

Centogene AG - the Rare Disease Company
Germany
7876
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Parkinson Disease and Parkinsonism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4426
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Basal ganglia calcification, idiopathic, 6, 616413, Autosomal dominant; IBGC6 (Bilateral striopallidodentate calcinosis) (XPR1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Basal ganglia calcification, idiopathic, 6, 616413, Autosomal dominant; IBGC6 (Bilateral striopallidodentate calcinosis) (XPR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Parkinson Disease and Parkinsonism Panel

PreventionGenetics, part of Exact Sciences
United States
6870
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Idiopathic Basal Ganglia Calcification Panel

PreventionGenetics, part of Exact Sciences
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystonia Exome

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

Invitae Dystonia Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
563
  • C Sequence analysis of the entire coding region

Basal ganglia calcification, idiopathic: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

BILATERAL STRIOPALLIDODENTATE CALCINOSIS (BSPDC)

Laboratorio de Genetica Clinica SL
Spain
44
  • C Sequence analysis of the entire coding region

Single gene testing XPR1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.