Test Directory

Non-Prenatal Specimens

Prenatal Specimens

Either specimen type below is acceptable.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

• Transport at room temperature within 24 hours.
• If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
• Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 

• Improperly labeled specimen (minimum of two patient identifiers)
• Inappropriate specimen type
• Incomplete or incorrect test request form
• Insufficient volume
• Specimen has leaked in transit
• Specimen without a test order

Mucopolysaccharidosis (MPS) is a group of progressive disorders with features ranging over a continuum of severity. MPS is considered a prototype of lysosomal storage disorder caused by accumulation of glycosaminoglycans (GAG) in the arteries, skeleton, eyes, joints, ears, respiratory system, liver, spleen, and central nervous system. MPS affects multiple organ systems. There are several different types and subtypes of mucopolysaccharidosis. In most cases of MPS, affected individuals appear normal at birth and symptoms become apparent around the age of one or two. The common findings include coarse facial features, frequent upper-respiratory infections, inguinal or umbilical hernia, hepatosplenomegaly, gibbus deformity, joint constriction, and corneal clouding. Additional findings include short stature, heart abnormalities, and neurological abnormalities such as developmental delay and intellectual disability.

The Mucopolysaccharidosis NGS panel includes fourteen genes: ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDUA, IDS, MCOLN1, NAGLU and SGSH.