46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals and Lungs

Synonym(s): SERKAL Syndrome

 

OMIM

GeneLocusProtein
WNT41p36.12Protein Wnt
Test Type
Molecular (3)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (2)
Genotyping (Microarray, Beads, etc.) (1)
Prenatal/Carrier
Prenatal (1)
Carrier (1)
Lab Location
Portugal(1)
Spain(1)
Germany(1)


Test
SERKAL syndrome (deletion/duplication analysis on WNT4 gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
SERKAL Syndrome, Sequencing WNT4 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
SERKAL syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany