This test detects arylsulfatase B activity.
|Turn-Around-Time (TAT)*||3 days|
|Acceptable Sample Types||
Dried Blood Spots
Whole Blood (EDTA)
|Acceptable Billing Types||
Self (patient) Payment
|Self (patient) Price||$108.90|
This test detects arylsulfatase B enzyme activity that has been associated mucopolysaccharidosis type VI (MPS VI).
This test may be appropriate for individuals with a clinical suspicion of mucopolysaccharidosis type VI and/or individuals with a family history of mucopolysaccharidosis type VI.
Mucopolysaccharidosis type VI is a disease associated with enlarged, inflamed, and scarred tissues and organs. The age of onset is typically in early childhood and symptoms usually include a large head, hydrocephalus, distinctive facial features, a large tongue, heart valve abnormalities, hepatosplenomegaly, umbilical or inguinal hernias, short stature, contractures, spinal stenosis, weakness of the hands and fingers, clouded corneas, sleep apnea, hearing loss, and recurrent ear infections. Life expectancy is reduced, and in severe forms death occurs in late childhood. The incidence of mucopolysaccharidosis type VI is estimated to be ~1 in 250,000.
Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.
Dried blood spot card
Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.
- NBS: Please contact PKIG to request the StepOne® kit.
- Gene Sequencing: Please contact PKIG to request the DBS collection kit.
- For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
EDTA (purple top)
Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.
Clotted or hemolyzed samples are not accepted.