Locus: 5q14.2

Protein: DNA repair protein XRCC4




Test Type
Molecular (7)
Multi-Gene Panel (3)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (6)
Sequencing, Next Gen (3)
Prenatal (2)
Carrier (4)
Lab Location
United Kingdom(1)
TAT: 8-9 weeks
price: contact lab
Comprehensive Primordial Dwarfism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
LIG4 Syndrome and LIG4 Syndrome like
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 16-20 weeks
price: contact lab
Microcephalic Primordial Dwarfism
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MRC Human Genetics Unit, Laboratory of Andrew Jackson - Edinburgh, United Kingdom
TAT: 4-5 Weeks
price: contact lab
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Short stature, microcephaly, and endocrine dysfunction (sequence analysis of XRCC4 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: $750.00
Primordial Dwarfism via the XRCC4 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Short stature, microcephaly, and endocrine dysfunction
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany