REPS1

OMIMHGNC

Locus: 6q24.1

Protein: RalBP1-associated Eps domain-containing protein 1

Tests

Test Type
Molecular (3)
Multi-Gene Panel (2)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (1)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (1)
Carrier (1)
Lab Location
USA(1)
Germany(1)
Portugal(1)
 
TAT: 4-6 weeks
price: contact lab
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
REPS1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 10-11 weeks
price: contact lab
Neurodegeneration with brain iron accumulation (NBIA), NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal