Analysis ID |
209 |
Analysis location |
“GENESIS” Centre for Medical Genetics |
Diagnosed illness |
Hand – foot – genital syndrome |
OMIM |
#140000 |
Clinical information |
Hand-foot-genital syndrome is a rare condition that influences the development of hands and feet, urinary tract, and reproductive system. Patients affected by this condition have abnormally short thumbs and great toes, small fifth fingers with clinodactyly, short feet, and delayed arm and leg bone ossification. Abnormalities of the genitals and urinary tract can vary among the affected individuals. Some patients with hand-foot-genital syndrome have defects in the ureters or urethra. Recurrent urinary tract infections have been reported. About half of the males with this disorder have hypospadias. |
Type of analysis |
Molecular |
Type of biological material |
5 ml of peripheral blood collected in an ETDA tube; DNA sample |
Analyzed genes |
HOXA13 |
Analysis description |
Sequencing of the coding region of the HOXA13 gene. |
Analysis indication |
Symptoms of hand – foot – genital syndrome. |
Analysis time |
Appointed individually |
Refund |
Yes |
CGM laboratory name |
Laboratory for diagnostics of the hereditary disorders |