RIPK4

OMIMHGNC

Synonym(s): DIK, ANKK2, RIP4, PKK, ANKRD3

Locus: 21q22.3

Protein: Receptor-interacting serine/threonine-protein kinase 4

 

Disorders

Tests

Test Type
Molecular (16)
Multi-Gene Panel (5)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (6)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (7)
Prenatal/Carrier
Prenatal (9)
Carrier (6)
Lab Location
Spain(1)
Portugal(2)
USA(11)
Germany(2)
 
Bartsocas-Papas Syndrome, Sequencing RIPK4 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Bartsocas-Papas syndrome (sequence analysis of RIPK4 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 3-5 weeks
price: contact lab
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 2-3 weeks
price: contact lab
Popliteal Pterygium Syndrome, Lethal Type
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Popliteal Pterygium Syndrome, Lethal Type
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Popliteal Pterygium Syndrome, Lethal Type
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 8-9 weeks
price: contact lab
Abnormal/Ambiguous Genitalia Sequencing Test
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-4 weeks
price: contact lab
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
RIPK4
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Multiple pterygium syndrome (NGS panel for 14 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: $690.00
Popliteal Pterygium Syndrome 2, Lethal Type via the RIPK4 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $810.00
Popliteal Pterygium Syndrome 2, Lethal Type via the RIPK4 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Popliteal pterygium syndrome, lethal type
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 8-10 weeks
price: contact lab
Congenital Contractures Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-5 weeks
price: $2,190.00
Skeletal Disorders and Joint Problems Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Skeletal Disorders and Joint Problems Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA