SNRPE

OMIMHGNC

Synonym(s): Sm-E

Locus: 1q32.1

Protein: Small nuclear ribonucleoprotein E

 

Disorders

Tests

Test Type
Molecular (3)
Multi-Gene Panel (1)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (2)
Prenatal/Carrier
Carrier (1)
Lab Location
USA(1)
Germany(2)
 
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair)
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
SNRPE
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Hypotrichosis type 11
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany