Profiles

Test List – Biochemical Tests (Profiles)
Profiles
No.	Tests	Sample Required	Approx. Turn Around Time
01	Galactosemia Screening Urine MRST, TLC Sugar, GALT & Galactose	3 ml Heparinised blood 20 ml Urine	24 Hrs
02	Protein Challenge for OTC Carrier	Follow protocol	3 Days
03	Tyrosinemia Profile Pl. Tyrosine, Phe, Meth, AFP, SA, PBG Synthase, Urine SA, DALA and SAA	20 ml Urine + 2 ml heparinised blood 3 ml EDTA Blood	4 – 6 Wks
04	Detailed metabolic profile Critically ill newborns / MR / Autism / Detailed IEM Screening with past H / S / O IEM	20 ml urine + 2 ml heparinised blood 2 ml EDTA blood 2 ml Serum	3 – 4 Wks
05	Homocysteine / Folic Acid / B12 / Methionine / MTHFR Mutation Analysis	2 ml Serum 2 ml Serum and 3 ml EDTA Blood	3 – 4 Days
06	MPS (Mini) Profile MPS Spot / GAG Qty. / MPS EPP / TLC Oligosaccharides / Aryl Sulphatase A/B, Beta Galactosidase, Beta Glucuronidase	20 ml urine – morning samples 5 ml EDTA blood 5 ml Heparinised blood	6 – 8 Wks
07	MPS (Detailed) Profile Above tests + Iduronidase and Iduronate Sulphatase	20 ml urine – morning samples 5 ml EDTA blood 5 ml Heparinised blood	6 – 8 Wks
08	LSD Profile – 14 Leucocyte enzymes + Chitotriosidase + Krabbe’s Dis. Screen	5 ml EDTA & 5 ml Heparinised Blood	6 – 8 Wks
09	Mini LSD Screen – 5 Disorders on DBS – Dis screened: Gaucher’s Dis, Fabry’s Dis., Krabbe’s Dis., Nieman Pick’s Dis., Pompe’s Dis.	4 Good sized Blood spots on S & S 903 Paper	6 – 8 Wks