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Test directory
A directory of the tests within our repertoire. The directory includes associated clinical information for each available test.
Showing 65 tests filtered by Metabolic and Newborn Screening Laboratory
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1
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Turnaround time: Usually within 7 days
A
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Turnaround time: 1 week
Acylcarnitines, blood spot
-
Turnaround time: 4 weeks
Acylcarnitines, plasma
-
Turnaround time: 6 to 8 weeks
Alpha amino adipidic semialdehyde
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-
-
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Turnaround time: 13 days. Urgent analysis is available following discussion with the laboratory.
Amino Acids (full analysis), CSF
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Turnaround time: 13 days. Urgent analysis is available following discussion with the laboratory.
Amino Acids (full analysis), plasma
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Turnaround time: 13 days. Urgent analysis is available following discussion with the laboratory.
Amino acids, urine
B
-
-
Turnaround time: 6 weeks
Bile acids profile, urine
-
-
Turnaround time: Within 4 weeks
Biotinidase, plasma
C
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Turnaround time: 5 weeks
Cardiolipin analysis (Barth Syndrome screen)
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Turnaround time: Within 4 weeks
Carnitine (free and total), plasma
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Turnaround time: Within 4 weeks
Carnitine (free and total), urine
-
Turnaround time: Within 8 weeks
Cholestanol in plasma (investigation of CTX)
-
Turnaround time: 2 weeks
Cystine, ornithine, lysine and arginine, urine
F
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Turnaround time: Withoin 1 week
Free fatty acids (non-esterified fatty acids, NEFA), plasma
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G
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Turnaround time: 35 days Urgent analysis may be available following discussion with the laboratory, contact details below.
Galactitol, urine
-
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Turnaround time: 11 days. Urgent analysis may be available following discussion with the laboratory, contact details below.
Galactose-1-phosphate uridyl transferase
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Turnaround time: 35 days
Galactose-1-phosphate, red blood cell
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-
-
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Turnaround time: 2 weeks
Glycogen storage disorders
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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)
-
-
Turnaround time: 4 weeks
Guanidinoacetate and creatine, plasma
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Turnaround time: 4 weeks
Guanidinoacetate and creatine, urine
I
K
L
M
-
-
Turnaround time: 4 weeks
Methylmalonic acid, serum/plasma
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Turnaround time: Within 3 weeks
Methylmalonic acid, urine
-
Turnaround time: 6 weeks
Mucopolysaccharides screen, urine
N
O
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Turnaround time: 4 weeks
Oligosaccharides, urine
-
Turnaround time: Within 2 weeks
Organic acids, urine
-
P
-
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Turnaround time: Within 2 full access days
Phenylalanine and tyrosine
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Turnaround time: Within 2 full access days
Phenylalanine, blood spot
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-
-
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Turnaround time: Within 8 weeks
Plasma 7-dehydrocholesterol, Desmosterol and Lathosterol
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Turnaround time: 4 weeks
PPT/TPP (Neuronal ceroid lipofuscinoses, Battens’ Disease)
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Turnaround time: 4 weeks
Purines and pyrimidines
R
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Turnaround time: 10 weeks
Red cell plasmalogens
S
-
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Turnaround time: Within 8 weeks
Sitosterol and Campesterol (Phytosterols)
-
T
-
-
Turnaround time: 7 weeks
Transferrin isoforms (electrofocusing)
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V
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Turnaround time: Within 4 weeks
Very long chain fatty acids (VLCFA), phytanic acid, pristanic acid plasma