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Test Code UHiRsOlig High Resolution Oligosaccharides, Urine

Clinical System Name

High Resolution Oligosaccharides, Urine

Synonyms

Urine High Resolution Oligosaccharides

Description

This urinary oligosaccharide and glycan screening is using MALDI-TOF/TOF technology, which provides a better sensitivity and specificity than the traditional TLC method. Different from the traditional TLC method, this method successfully detects subtle excretions of abnormal oligosaccharides in mucolipidosis II and III ( I cell disease) as well as other oligosaccharidoses. Conditions screened for are the following: Fucosidosis, Alpha-mannosidosis, Beta-mannosidosis, Sialidosis, Aspartylglucosaminuria, Schindler disease, Kanzaki disease, Mucolipidosis II and III ( I cell disease), Galactosialidosis, CDGIIb, Pompe disease, and Tay Sachs / Sandhoff (GM2).

Sample Requirements

Specimen: Urine

Container(s): Sterile Screw-Capped Container

Preferred Vol: 10 mL

Minimum Vol: 5 mL

 

Note: First void preferred, but random accepted.

Processing Instructions

Reject due to:

Spin: N

Aliquot: Y

Temp: -20 C

Storage Location: CPA -20 Freezer, Send Outs rack

 

Off-site collection: Sample should be frozen within 24 hours of collection. Transport frozen urine to Seattle Children's Main Lab.

Stability

Specimen Type Temperature Time
  Room temp N
  Refrigerated N
  Frozen Indefinitely

 

Availability

STAT Performed TAT
N Daily 7 - 10 d

 

Performing Laboratory

EGL Genetics

2460 Mountain Industrial Boulevard

Tucker, GA 30084

 

Phone Number: (855) 831-7447

Department

Department: Send Outs

Phone Number: (206) 987-2563

Methodology

Method: Matrix-Assisted Laser Desorption/Ionization-Time of flight/Time of flight (MALDI-TOF/TOF) Method

Analytical Volume: 5 mL

Limitations:

CPT Codes

82542

82570

84377

Send Out Instructions

Reference Test Name Oligosaccharidosis and Congenital Disorders of Glycosylation: High resolution Oligosaccharide (Free Glycan) Profile, Urine
Reference Test Code OS
Instructions Ship Monday through Friday on dry ice via FedEx with overnight delivery. Saturday delivery is acceptable.