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

Technical University Munich – Institute for Human Genetics

Munich, Germany
Tests individually for: PKAN, MPAN, PLAN
NBIA Panel Test: Tests all NBIA disorders at once (plus GTPBP2, SCP2)
Analysis methods: Whole Exome Sequencing, Genome Sequencing, RNA Sequencing
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

Spain

Principe Felipe Research Center – Dept. of Genomics and Translational Genetics

Valencia, Spain
Tests individually for: each NBIA disorder (plus GTPBP2, SCP2)
NBIA Panel Test: Tests all NBIA disorders at once
Analysis methods: Deletion/Duplication Analysis
Website

Abbreviations Chart