Genesis Centrum Genetyki Medycznej - GENESIS Center for Medical Genetics - Hand – foot

Hand – foot – genital syndrome
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