TWIST2

OMIMHGNC

Synonym(s): DERMO1, Dermo-1, bHLHa39

Locus: 2q37.3

 

Disorders

Tests

Test Type
Molecular (11)
Multi-Gene Panel (2)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (6)
Carrier (2)
Lab Location
Spain(2)
USA(7)
Poland(1)
Germany(1)
 
Focal Dermal Facial Dysplasia Type 3 (Setleis Syndrome) , Sequencing TWIST2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Skin Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair)
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-3 weeks
price: contact lab
Ablepharon-Macrostomia Syndrome (AMS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Ablepharon-Macrostomia Syndrome (AMS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Ablepharon-Macrostomia Syndrome (AMS)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Barber-Say Syndrome (BBRSAY)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Barber-Say Syndrome (BBRSAY)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Barber-Say Syndrome (BBRSAY)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-5 Weeks
price: contact lab
TWIST2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Ablepharon-Macrostomia Syndrome, Sequencing TWIST2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain