Locus: 2q37.1

Protein: Serine protease 56




Test Type
Molecular (11)
Multi-Gene Panel (8)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (9)
Prenatal (2)
Carrier (4)
Lab Location
Glaucoma, Panel Massive Sequencing (NGS) 19 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Microphthalmia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 8-9 weeks
price: contact lab
Microphthalmia (NGS panel for 26 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: $780.00
Posterior Microphthalmia via the PRSS56 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 11-12 weeks
price: contact lab
Microphthalmia NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
Microphthalmia, isolated type 6
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Microphthalmia/Anophthalmia Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia