Morquio A, MPS IVA (GALNS) Sequencing
|Disorder||Morquio syndrome type A, MPS IVA|
Morquio syndrome, or mucopolysaccharidosis type IV, 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.
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.|
Total quantitative urine glycosaminoglycans and MPS electrophoresis can be used as screening tools for a suspected MPS disorder. The diagnosis is usually established by demonstrating deficient enzyme activity for N-acetyl-galactosamine-6-sulfatase, which is available through the Biochemical Diagnostic Laboratory.
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.|
|Turnaround time||3 weeks|
|Prenatal testing||Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.|
|CPT Codes||Unknown mutation: 81479
Known mutation: 81479
Deletion/Duplication Analysis: 81229
|Cost||$1000 for full sequencing (unknown mutation)
$350 for known mutation
$700 for deletion/duplication analysisPrenatal diagnosis for a known mutation is $1000. Please contact the lab for more information.
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.