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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

HEXA mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tay-Sachs disease (HEXA gene)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
31
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Diseases

Asper Biogene Asper Biogene LLC
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Amyotrophic Lateral Sclerosis Panel

Invitae
United States
2921
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
68175
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
172204
  • C Sequence analysis of the entire coding region

Hereditary Degenerative Syndromes Panel

CeGaT GmbH
Germany
2849
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
146143
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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