ECM1

OMIMHGNC

Locus: 1q21.2

Protein: Truncated extracellular matrix protein 1

 

Disorders

Tests

Test Type
Molecular (5)
Multi-Gene Panel (1)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (2)
Prenatal/Carrier
Carrier (2)
Lab Location
Portugal(2)
USA(2)
Germany(1)
 
Urbach-Wiethe disease (sequence analysis of ECM1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-5 Weeks
price: contact lab
ECM1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-8 weeks
price: contact lab
Lipoid proteinosis: ECM1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: ~2 weeks
price: contact lab
Urbach-Wiethe disease
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany