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Test tubes in a laboratory

United States

Knight Diagnostic Laboratories

Portland, Oregon
Tests Individually for: PKAN, PLAN, MPAN, BPAN, FAHN, Neuroferritinopathy
NBIA Panel Test: Tests 15 disorders at once (including some similar to NBIA disorders):
More Information  Website

University of Chicago Genetic Testing Laboratories

Chicago, Illinois
Tests for: PKAN, PLAN
Website

Germany

Bioscientia – Institut für Medizinische Diagnostik GmbH

Ingelheim, Germany
Tests individually for: PKAN, PLAN, BPAN
NBIA Panel Test: Tests all NBIA disorders at once (plus gene RAB39B)
Analysis methods: Deletion / Duplication Analysis, Sanger Sequencing, Next Generation Sequencing (NGS) (Panel)
Website

CeGaT GmbH – Center for Genomics and Transcriptomics

Tübingen, Germany
Tests individually for: each NBIA disorder (plus SCP2, REPS1, SCC25-142)
NBIA Panel Test: Tests all NBIA disorders at once (plus GTPBP2, SCP2)
Analysis methods: Deletion / Duplication Analysis, Whole Exome Sequencing, Next Generation Sequencing (NGS) (Panel)
Website

Diagenos

Osnabrück, Germany
Tests individually for: each NBIA disorder (plus GTPBP2, SCP2)
NBIA Panel Test: Tests all NBIA disorders at once (plus GTPBP2, SCP2)
Analysis methods: Deletion / Duplication Analysis, Whole Exome Sequencing
Website

Labor Lademannbogen MVZ GmbH

Hamburg, Germany
Tests individually for: Aceruloplasminemia, Neuroferritinopathy
Analysis methods: Sanger Sequencing
Website

Laborärzte Singen

Singen, Germany
Tests individually for: Neuroferritinopathy
Website

Ruhr-Universität Bochum, Humangenetik

Bochum, Germany
Tests individually for: PKAN, PLAN
Analysis methods: Deletion / Duplication Analysis
Website

Zentrum für Nephrologie und Stoffwechsel, Molekulargenetisches Labor

Weisswasser, Germany
Tests individually for: each NBIA disorder except COASY (plus SCP2)
NBIA Panel Test: Tests all NBIA disorders at once except COASY (plus SCP2)
Analysis methods: Whole Clinical Exome Sequencing
Website

Austria

Institut für Medizinische Genetik, Medizinische Universität Wien

Vienna, Austria
Tests individually for: each NBIA disorder (plus GTPBP2, SCP2)
NBIA Panel Test: Tests all NBIA disorders at once (plus GTPBP2, SCP2)
Analysis methods: Deletion / Duplication Analysis, Whole Exome Sequencing, Sanger Sequencing
Website

Praxis für Humangenetik

Vienna, Austria
Tests individually for: each NBIA disorder (plus GTPBP2, SCP2)
NBIA Panel Test: Tests all NBIA disorders at once (plus GTPBP2, SCP2)
Analysis methods: Deletion / Duplication Analysis, Whole Exome Sequencing
Website

 

Abbreviations Chart

GENE NAME OF DISORDER ABBREVIATION
PANK2 Pantothenate Kinase-Associated Neurodegeneration PKAN
PLA2G6 PLA2G6-Associated Neurodegeneration PLAN
C19orf12 Mitochondrial-membrane Protein-Associated Neurodegeneration  MPAN
WDR45 Beta-propeller Protein-Associated Neurodegeneration BPAN
COASY COASY Protein-Associated Neurodegeneration CoPAN
FA2H Fatty-Acid Dyroxylase-associated Neurodegeneration FAHN
CP Aceruloplasminemia  
ATP13A2 Kufor-Rakeb  
FTL Neuroferritinopathy  
DCAF-17 Woodhouse-Sakati Syndrome