The following 32 biochemical tests may now be ordered through the portal. If you would like to add any of these tests to your list of preferred tests, please contact your sales representative.
* Acid sphingomyelinase (Niemann-Pick A/B)
* Acid α-glucosidase (Pompe disease)
* Acid β-glucosidase (Gaucher disease)
* Acylcarnitine profile (dried blood spot)
* Acylcarnitine profile (plasma)
* Amino acids full panel (cerebrospinal fluid)
* Amino acids full panel (plasma)
* Amino acids full panel (urine)
* Amino acids selective panel
* Aminolevulinic acid and porphobilinogen (plasma)
* Aminolevulinic acid and porphobilinogen (urine)
* Carnitine concentration profile (plasma)
* Carnitine concentration profile (urine)
* Chitotriosidase (Gaucher disease biomarker)
* Hemoglobinopathy evaluation
* Lysosomal acid lipase enzyme analysis
* Methylmalonic acid (plasma)
* Methylmalonic acid (urine)
* Organic acids (urine)
* Orotic acid (urine)
* Phenylalanine and tyrosine
* Plasma lyso-GL1 analysis
* Plasma psychosine analysis
* Quantitative GAG analysis (DS, HS, CS)
* Quantitative keratan sulfate analysis
* Sandhoff disease, hexosaminidase B (prenatal)
* Sandhoff disease, hexosaminidase B (postnatal)
* Succinylacetone
* Tamoxifen metabolites
* Tay-Sachs disease enzyme
* Tay-Sachs disease enzyme (prenatal)
* α-L-iduronidase (MPS I)
* β-galactocerebrosidase (Krabbe disease)