| Test: |
Hypoxanthine-guanine phosphoribosyltransferase |
| Alternate names: |
HPRT |
| Description: |
Lesch-Nyhan syndrome (LNS) is an X-linked recessive inborn error of metabolism caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is characterized by motor dysfunction, cognitive and behavioral disturbances, and uric acid overproduction (hyperuricemia). Patients have both extra-pyramidal signs (dystonia, choreoathetosis) and may also have pyramidal features including hyperreflexia and clonus. There is cognitive impairment and self-injurious behavior. Overproduction of uric acid may lead to deposition of uric acid crystals or calculi in the kidneys, ureters, or bladder. Definitive diagnosis is obtained by measurement of HPRT enzyme activity in blood or tissue. |
| Clinical: |
Lesh Nyhan |
| Methodology: |
gene sequence |
| Turn around time: |
3 months |
| Transit stability: |
|
| Comments: |
If possible HPRT enzyme activity |
| Sample: |
Blood EDTA 2 ml, dried blood spots or buccal swabs |
| Type: |
Genetics |
| Method: |
Gene sequencing |
 |
|
| Consultant/scientist: |
Dr Fierdoz Omar |
| Tel: |
021 404 4118 |
| email: |
fierdoz.omar@uct.ac.za |
|
|
| Contact for results: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@uct.ac.za |
|
|
| Delivery address |
C17 NHLS Labs, NGSH, Observatory, 7925 |
| for samples: |
Cape Town |
