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Test Code Sanfil Enz Sanfilippo Syndrome types A, B, C, and D

Important Note

Samples MUST be drawn Monday - Thursday 10AM-1330PM ONLY.

Clinical System Name

Sanfilippo Syndrome Enzyme Panel

Sample Requirements

Specimen: Whole Blood

Container(s): Dark Green/Sodium Heparin Tube (No gel Separator)

Preferred Vol: 10 mL

Minimum Vol: 7 mL

 

Note: Send tubes to lab immediately. Samples MUST reach the reference lab within 24 hours of the blood draw.

Processing Instructions

Reject due to: Sample collected 1330PM - 2400PM and Friday - Sunday.

Spin: N

Aliquot: N

Temp: RT

Storage location:  Process sample immediately. Do not spin. Affix large Cerner label(s) and place in room temp send-outs rack. Notify send outs Tech.

 

Off-site collection:

Stability

Specimen Type Temperature Time
Whole Blood Room temp Y
  Refrigerated N
  Frozen N

 

Availability

STAT Performed TAT
N   2 - 3 wks

 

Performing Laboratory

Greenwood Genetic Center

Department

Greenwood Genetic Center

1 Gregor Mendel Circle
Greenwood, SC 29646
1 (888) GGC-GENE

 

Reference Range

Interpretive report provided.
 

Methodology

Method: Sequence Analysis

Analytical Volume:

Limitations:

CPT Codes

Single enzyme: 82657
Panel of Sanfilippo A, B, C and D: 82657(x4)

Clinical Utility

Sanfilippo syndrome is caused by a defect in one of four enzymes required for the modification and removal of glucosamine residues from heparan sulfate. A defect in one of these four enzymes (types A-D) results in the accumulation of heparan sulfate in the patient’s cells and organs which overtime leads to the clinical phenotype. Patients with Sanfilippo syndrome experience delayed development with a progressively deteriorating mental status. Behavior and sleep problems are common as well as coarse facial features and stiff joints. The four types of Sanfilippo syndrome (A-D) are clinically indistinguishable, thus enzyme testing is recommended as an initial diagnostic test

Send Out Instructions

 

Reference Test Name: Sanfilippo syndrome, Type A (SGSH) sequencing
Reference Test Number: SGSH
Instructions: Ship whole blood at room temperature overnight via FedEx.