Investigation Name:Alpha Amino Adipic Semialdehyde (AASA)

Alias or Abbreviation:AASA

Pathology Laboratory:Clinical Chemistry/ Biochemistry

Requestable Seperately?Yes

Units:mmol/ mol creat

Minimum Sample Volume:3 m/L

Test Code:AOT

Sample Type:

Complex Reference Range:Controls (age <6 months): <4.0 mmol AASA / mol creatinine
Controls (age 6 - 12 months): <2.5 mmol AASA / mol creatinine >br/> Controls (age >12 months): < 2 mmol AASA / mol creatinine
Patients proven to have antiquitin 2.4 - 140 mmol AASA / mol creatinine mutations on both alleles.

Collection Conditions / Other Information:Sample must reach us within 16 hours or be delivered frozen.
Particularly susceptible to breakdown if unfrozen.
If sample is too dilute it makes quantitation difficult and test may need repeating. LAB INSTRUCTIONS : Freeze on arrival. Send frozen.

Reference Laboratory Details:UCL Institute of Child Health, 30 Guilford Street, LONDON, WC1N 1EH. Tel: 0207 242 9789 switchboard ask for Biochemistry Lab.

Referred to Another Laboratory?Yes

Lead Contact Details:For clinical queries email: rwh-tr.bcpsdutybiochemist3@nhs.net

Contact Number:01902 307 999 Ext 88266