Logo
FoundationCareersLocations

Morquio Syndrome (MPS IV) Enzyme Panel

Home
Test Finder
Morquio Syndrome (MPS IV) Enzyme Panel

Key Information

Lab:

Biochemical

TAT:

14 days

Price:

$400

CPT Code(s):

82657x2

Test Code:

BMQP, BMQD

Order Form

Morquio Syndrome (MPS IV) Enzyme Panel

This panel measures the activity of 2 enzymes in patients with a diagnosis or clinical suspicion of Morquio syndrome (Mucopolysaccharidosis IV, MPS IV). Enzyme analysis for each type of Morquio syndrome can be ordered individually or as a panel. Because Morquio type A and GM1 gangliosidosis, Morquio B can have significant clinical overlap, enzyme analysis is necessary to distinguish between the two. These enzymes are required for the modification and removal of keratan sulfate.

beta-galactosidase, N-acetylgalactosamine-6-sulfatase

Morquio syndrome A (MPS IVA), GM1 gangliosidosis (Morquio B)

Clinical Information

Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, a bell-shaped chest, vertebral anomalies, joint stiffness and kyphoscoliosis. Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. There is typically no cognitive impairment.

Technical Information

Enzyme activity is measured using a 4-methylumbelliferyl (4-MU) substrate and liquid chromatography-tandem mass spectrometry (LC-MS/MS) (DBS).

Specimen Requirements

  • Dried blood spots (DBS) and whole blood are the accepted sample types for this test.
  • DBS: Approximately 75 uL of blood should be applied to each of the five circles on filter paper dried blood spot card. Allow blood to dry for at least 4 hours before shipping.
  • Whole Blood: A minimum of 5 mL (preferably 7-10 mL) whole blood collected in a sodium heparin tube.

Transport Instructions

  • DBS: Ship DBS card at ambient temperature.
  • Whole Blood: Whole blood should be shipped at ambient temperature.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

Email the Lab