Since Lesch-Nyhan syndrome is a genetic disorder, it is frequently overlooked or misdiagnosed if very close examination does not occur. In young children (less than 1 year old) it is frequently misdiagnosed a cerebral palsy because of the muscular spasticity (Jinnah, 2010). The only way to guarantee the presence of LNS in an individual is through a full karyotype. Most commonly, the karyotype is found by a sample made from the amniotic fluid during a natural birth, or Blastomere analysis for an in vitro fertilization prior tot he implantation of the fertilized egg. The sample used for the karyotype can be withdrawn at any point during the individual life (even after birth).
There are several different factors that can be mutated to cause an HPRT deficiency and, therefore, LNS. In fact, nine different specific areas are known to cause Lesch-Nyhan syndrome when mutated in anyway (i.e. deletion, insertion, and point mutations), as seen below.