beta-galactosidase
GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
Key Information
Lab:
TAT:
14 days
Price:
$200
CPT Code(s):
82657
Test Code:
BBGLL, BBGLF, BBGLD
GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
This test measures beta-galactosidase enzyme activity and can be used as a first-tier test for patients with a clinical suspicion of morquio B syndrome, mucopolysaccharidosis IVB (MPSIVB)/GM1 gangliosidosis. Confirming deficient enzyme activity is the gold standard in diagnosis and can be used to support the interpretation of GLB1 variants and monitor patients undergoing treatment.
Note: Sending fibroblasts will extend turnaround to 28 days.
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. Intelligence is typically not affected.
Technical Information
4-methylumbelliferyl (4-MU) substrate
Specimen Requirements
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.
Fibroblasts: Tissue sample should be stored in sterile culture media; cultured fibroblasts should be sent in two T25 flasks. Do NOT place tissue in formalin or formaldehyde. Do not freeze tissue.
Leukocytes: Minimum of 5 mL whole blood (7-10 mL preferred) collected in a sodium heparin tube
Transport Instructions
DBS: Ship DBS card at ambient temperature.
Fibroblasts: Ship tissue sample or cultured fibroblasts at ambient temperature
Leukocytes: Whole blood should be shipped at ambient temperature. If leukocytes are being isolated at another laboratory, the pellet should be frozen after specimen processing and shipped frozen on dry ice.
Associated Tests
- Morquio Syndrome (MPS IV) Enzyme Panel
- Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)
- Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis
- Mucopolysaccharidosis (MPS) Enzyme Panel
- Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)
- Storage Disease Panel
- Total Glycosaminoglycans (GAGs) Analysis
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