Test List – Biochemical Tests (Profiles)
Profiles
|
No.
|
Tests
|
Sample Required
|
Approx. Turn
|
|
|
|
|
Around time
|
|
01
|
Galactosemia Screening Urine MRST,
|
3 ml Heparninised
|
24 Hrs
|
|
|
TLC Sugar, GALT & Galactose
|
blood and 20 ml
|
|
|
|
|
Urine
|
|
|
02
|
Protein Challenge for OTC Carrier
|
Follow protocol
|
3 Days
|
|
03
|
Tyrosinemia Profile Pl. Tyrosine, Phe,
|
20 ml Urine+ 2 ml
|
4 – 6 wks
|
|
|
Meth, AFP, SA, PBG Synthase, Urine SA,
|
heparinised blood
|
|
|
|
DALA and SAA
|
& 3 ml EDTA Blood
|
|
|
04
|
Detailed metabolic profile Critically ill
|
20 ml urine + 2 ml
|
3 – 4 wks
|
|
|
newborns / MR / Autism / Detailed IEM
|
heparinised blood,
|
|
|
|
Screening with past H / S / O IEM
|
2 ml EDTA blood
|
|
|
|
|
& 2 ml Serum
|
|
|
05
|
Homocysteine / Folic Acid / B 12 /
|
2 ml Serum
|
3 – 4 Days
|
|
|
Methionine / MTHFR Mutation Analysis
|
2 ml Serum and
|
|
|
|
|
3 ml EDTA Blood
|
|
|
06
|
MPS (Mini) Profile MPS Spot / GAG Qty. /
|
20 ml urine –
|
6 – 8 wks
|
|
|
MPS EPP / TLC Oligosaccharides / 4
|
morning samples,
|
|
|
|
enzymes Aryl Sulphatase A / B, Beta
|
5 ml EDTA blood
|
|
|
|
Galactosidase, Beta Glucuronidase
|
& 5 ml Heparinised
|
|
|
|
|
blood
|
|
|
07
|
MPS (Detailed) Profile Above tests +
|
20 ml urine –
|
6 – 8 wks
|
|
|
Iduronidase and Iduronate Sulphatase
|
morning samples,
|
|
|
|
|
5 ml EDTA blood
|
|
|
|
|
& 5 ml Heparinised
|
|
|
|
|
blood
|
|
|
08
|
LSD profile – 14 Leucocyte enzymes +
|
5 ml EDTA & 5ml
|
6 – 8 wks
|
|
|
Chitotrisidase + Krabbe’s Dis. Screen
|
Heparinised Blood
|
|
|
09
|
Mini LSD Screen – 5 Disorders on DBS –
|
4 Good sized Blood
|
6 – 8 wks
|
|
|
Dis screened – Gaucher’s Dis, Fabry’s
|
spots on S & S 903
|
|
|
|
Dis. Krabbe’s Dis., Nieman Pick’s Dis.,
|
Paper.
|
|
|
|
Pompe’s Dis,
|
