SKIV2L

OMIMHGNC

Synonym(s): HLP, DDX13, SKI2W, 170A, SKIV2L1, SKIV2

Locus: 6p21.33

Protein: Helicase SKI2W

 

Disorders

Tests

Test Type
Molecular (6)
Multi-Gene Panel (1)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (3)
Carrier (3)
Lab Location
Portugal(1)
USA(2)
Spain(2)
Germany(1)
 
Trichohepatoenteric syndrome 2 (sequence analysis of SKIV2L gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
SKIV2L Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Trichohepatoenteric Syndrome Type 2, Sequencing SKIV2L Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Trichohepatoenteric Syndrome, Panel Massive Sequencing SKIV2L, TTC37 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
SKIV2L
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Trichohepatoenteric syndrome type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany