| Laboratory: | Clinical Biochemistry (METABOLIC) |
| Test Name: |
ALPHA-AMINOADIPIC SEMIALDEHYDE - (U)
Test Code:
MISM
|
| Clinical Information: |
Alternate Name(s): AASA, Piperidine-6-carboxylic Acid, P6C, Pyridoxine-Dependent Seizures
Description: Measurement of urine alpha-aminoadipic semialdehyde acid by LC-MSMS Recommendations: Please ensure all required information including patient’s clinical history and indication is provided on the requisition. |
| Collection Devices: |
Preferred Device:
|
| Specimen Required: |
Urine: 5.0 mL
Pediatric Urine: 1.0 mL
Pediatric Volume: 1.0-5.0 mL Collection Information: Random urine. No preservatives. Special Processing: Place urine on ice following collection and forward to the laboratory. Sample MUST be frozen upon receipt in the laboratory (within 2 hours). Compound is very unstable at RT or refrigerated Specimen Stability: Ambient: Not stable Refrigerated: Not stable Frozen: Indefinitely Other comments: Avoid any thawing! |
| Referral: |
Shipping & Storage: Store and ship frozen to Biochemical Genetics Lab (HSC).
Send the original requisition or a clear copy with the sample. Referred Out Location: Medical Neurogenetics Laboratories (MNG/LabCorp), Test: MET20 |
| Requisition: | |
| Reference Values: |
Reference values provided on report from testing laboratory.
Method of Analysis: Liquid Chromatography Mass Spectrometry (LC-MSMS) |
| Availability: |
Within 3 Weeks
Prior arrangements with Metabolic Lab (Dr. Seargeant).
|
| See Also: | |
| More Information: |
Send specimen on ice to Health Sciences Centre, Biochemistry Laboratory MS551 for referral to VU University Medical Center.
Sample must be frozen upon receipt in the laboratory. Freeze within 2 hours of collection. To ship to The Netherlands, ship frozen samples packed well in ice packs frozen @ -70C via FedEx (dry ice desirable, but not used due to shipping restrictions) to: Dr G. Salomons / Dr C. Jakobs VU University Medical Center Dept Clinical Chemistry, Metabolic Unit Polikliniek rec K (PK 1X 009) De Boelelaan 1117 1081 HV Amsterdam The Netherlands Phone: +31 20 444 2914/ 2880 Fax: + 31 20 444 0305 Email: g.salomons@vumc.nl Email: C.Jakobs@vumc.nl Interpretation & Assay Interferences: This test can be done regardless of pyridoxine therapy. |