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Results: 21 to 40 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

TOR1A MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • D Deletion/duplication analysis

Structural diseases of basal ganglia (WES based NGS panel of 72 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
173
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Neurodegenerative Disorders Panel 

CGC Genetics Unilabs
Portugal
15392
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel 

CGC Genetics Unilabs
Portugal
17367
  • C Sequence analysis of the entire coding region

Parkinson's Disease Panel

CGC Genetics Unilabs
Portugal
182
  • C Sequence analysis of the entire coding region

Dystonia (WES based NGS panel of 117 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1117
  • C Sequence analysis of the entire coding region

Torsion dystonia (DYT1, deletion/duplication analysis on TOR1A gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Torsion dystonia (DYT1, GAG deletion on TOR1A gene)

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

Torsion dystonia (DYT1, sequence analysis of TOR1A gene)

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

Dementia and Parkinson's Panel

Mendelics
Brazil
260
  • C Sequence analysis of the entire coding region

Dystonia Panel

Mendelics
Brazil
136
  • C Sequence analysis of the entire coding region

PARKINSON'S DISEASE AND PARKINSONISM EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
196
  • E Sequence analysis of select exons

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

DYSTONIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1119
  • E Sequence analysis of select exons

EPILEPSY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1696
  • E Sequence analysis of select exons

MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1416
  • E Sequence analysis of select exons

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Dystonia panel. NGS panel of 20 genes.

Genologica Medica
Spain
3520
  • C Sequence analysis of the entire coding region

Arthrogryposis multiplex congenita: Full gene sequencing panel

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

Results: 21 to 40 of 80

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.