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Diagnosis of neurodegeneration with brain iron accumulation (gene panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 24/07/2017
  • Reference Laboratory Genetics
  • Reference Laboratory Genetics
  • Calle Pablo Iglesias 57
  • 08908 L'HOSPITALET DE LLOBREGAT
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 932593700
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: July 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (12)
Aceruloplasminemia
Adult-onset dystonia-parkinsonism
Atypical pantothenate kinase-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration
COASY protein-associated neurodegeneration
Classic pantothenate kinase-associated neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration
Infantile neuroaxonal dystrophy
Kufor-Rakeb syndrome
Mitochondrial membrane protein-associated neurodegeneration
Neuroferritinopathy
Woodhouse-Sakati syndrome
List of genes tested (including panels) (10)
ATP13A2
C19ORF12
COASY
CP
DCAF17
FA2H
FTL
PANK2
PLA2G6
WDR45
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.