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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

PLPBP - 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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy, early-onset, vitamin B6-dependent, 617290, Autosomal recessive; EPVB6D (Pyridoxine-dependent epilepsy) (PLPBP 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

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy, early-onset, vitamin B6-dependent (sequence analysis of PLPBP)

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

Pyridoxal phosphate binding protein (PLPBP)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • C Sequence analysis of the entire coding region

Epilepsy

Asper Biogene Asper Biogene LLC
Estonia
210204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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