Turnaround time: Usually within 7 days
Home > Test directory
Test directory
A directory of the tests within our repertoire. The directory includes associated clinical information for each available test.
Showing 66 tests filtered by Paediatric Metabolic Laboratory and New Born Screening
Reset filters
1
A
-
Turnaround time: 1 week
Acylcarnitines, blood spot
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 4 weeks
Acylcarnitines, plasma
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 6 to 8 weeks
Alpha amino adipidic semialdehyde
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 5 weeks
Alpha galactosidase
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 4 weeks
Alpha glucosidase
Category: Paediatric Metabolic Laboratory and New Born Screening
-
-
Turnaround time: 13 days. Urgent analysis is available following discussion with the laboratory.
Amino Acids (full analysis), CSF
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 13 days. Urgent analysis is available following discussion with the laboratory.
Amino Acids (full analysis), plasma
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 13 days. Urgent analysis is available following discussion with the laboratory.
Amino acids, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
B
-
-
Turnaround time: 6 weeks
Bile acids profile, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
-
-
Turnaround time: Within 4 weeks
Biotinidase, plasma
Category: Paediatric Metabolic Laboratory and New Born Screening
C
-
Turnaround time: 5 weeks
Cardiolipin analysis (Barth Syndrome screen)
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: Within 4 weeks
Carnitine (free and total), plasma
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: Within 4 weeks
Carnitine (free and total), urine
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: Within 8 weeks
Cholestanol in plasma (investigation of CTX)
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 2 weeks
Cystine, ornithine, lysine and arginine, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
F
-
Turnaround time: Withoin 1 week
Free fatty acids (non-esterified fatty acids, NEFA), plasma
Category: Paediatric Metabolic Laboratory and New Born Screening
-
G
-
Turnaround time: 35 days Urgent analysis may be available following discussion with the laboratory, contact details below.
Galactitol, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
-
-
Turnaround time: 11 days. Urgent analysis may be available following discussion with the laboratory, contact details below.
Galactose-1-phosphate uridyl transferase
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 35 days
Galactose-1-phosphate, red blood cell
Category: Paediatric Metabolic Laboratory and New Born Screening
-
-
-
-
Turnaround time: 2 weeks
Glycogen storage disorders
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 5 weeks Quoted TAT increased to take account of the need to wait for the Oxalate result before deciding whether to send for this test.
Glycolate (PH metabolites)
Category: Paediatric Metabolic Laboratory and New Born Screening
-
-
Turnaround time: 4 weeks
Guanidinoacetate and creatine, plasma
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 4 weeks
Guanidinoacetate and creatine, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
H
I
K
L
-
-
-
Turnaround time: 8 weeks
Lysosomal enzymes
Category: Paediatric Metabolic Laboratory and New Born Screening
M
-
-
Turnaround time: 4 weeks
Methylmalonic acid, serum/plasma
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: Within 3 weeks
Methylmalonic acid, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 6 weeks
Mucopolysaccharides screen, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
N
O
-
Turnaround time: 4 weeks
Oligosaccharides, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: Within 2 weeks
Organic acids, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 3 weeks
Orotic acid, urine
Category: Paediatric Metabolic Laboratory and New Born Screening
P
-
-
Turnaround time: Within 2 full access days
Phenylalanine and tyrosine
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: Within 2 full access days
Phenylalanine, blood spot
Category: Paediatric Metabolic Laboratory and New Born Screening
-
-
-
-
Turnaround time: Within 8 weeks
Plasma 7-dehydrocholesterol, Desmosterol and Lathosterol
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 4 weeks
PPT/TPP (Neuronal ceroid lipofuscinoses, Battens’ Disease)
Category: Paediatric Metabolic Laboratory and New Born Screening
-
Turnaround time: 4 weeks
Purines and pyrimidines
Category: Paediatric Metabolic Laboratory and New Born Screening
R
-
Turnaround time: 10 weeks
Red cell plasmalogens
Category: Paediatric Metabolic Laboratory and New Born Screening
S
-
-
Turnaround time: Within 8 weeks
Sitosterol and Campesterol (Phytosterols)
Category: Paediatric Metabolic Laboratory and New Born Screening
-
T
-
-
Turnaround time: 7 weeks
Transferrin isoforms (electrofocusing)
Category: Paediatric Metabolic Laboratory and New Born Screening
-
V
-
Turnaround time: Within 4 weeks
Very long chain fatty acids (VLCFA), phytanic acid, pristanic acid plasma
Category: Paediatric Metabolic Laboratory and New Born Screening