Kallmann (KAL1) and Steroid Sulphatase Deficiency (STS) Combination Probe LPU016

Kallmann syndrome (KS) is a rare developmental disease characterised by olfactory deficiency and hypogonadotrophic hypogandism, which is responsible for the absence of spontaneous puberty. It affects about 1 in 8,000 males and 1 in 40,000 females.

Steroid Sulphatase Deficiency (STS) (also known as X-linked Ichthyosis because of the dark, adhesive and regular scaling of the skin) is the second most common type of ichthyosis and one of the most frequent human enzyme deficiency disorders. Complete deletions of the STS gene have been found in more than 90% of patients, deletions have been known to extend and involve adjacent genes, and deletions are known to be responsible for aspects of ichthyosis. This gene is mapped to a distal region on the p arm of the X chromosome which escapes X-chromosome inactivation.

Cytocell has developed a probe set that gives added value by providing two different coloured probes for separate diseases and will also help to delineate the extent of deletions of Xp.