Neurodegenerative syndrome due to cerebral folate transport deficiency

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Name:	Neurodegenerative syndrome due to cerebral folate transport deficiency
ORPHAcode:	217382
XREF(s):	Orphanet ICD-10 OMIM
Analyte(s):	FOLR1
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Cerebral folate transport deficiency (2 genes)

Related Laboratories

• Centre de Génétique Humaine - CHU Sart-Tilman

Related Analytes

• FOLR1

Related Gene Panels

• Cerebral folate transport deficiency (2 genes) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  FOLR1
  FOLR2