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Test Code SGSH Seq SGSH Sequencing

Clinical System Name

Sanfilippo Syndrome, Type A Sequencing


Sanfilippo Syndrome

Mucopolysaccharidosis Type IIIA

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants


Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 10 µg of purified DNA at a concentration of at least 20 µg/ml 

Minimum Vol:  5 µg of purified DNA at a concentration of at least 20 µg/ml



Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole Blood Room temp Y
Whold Blood Refrigerated Y
Whole Blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated  1 y
Extracted DNA Frozen Indefinitely



STAT Performed TAT
N   18 d


Performing Laboratory



Department:     PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number:    (715) 387-0484

Reference Range

Interpretive report provided.


Method: Bidirectional DNA Sanger sequencing of all coding exons and splice sites of the SGSH gene. The full coding sequence of each exon plus ~ 20 bp of flanking DNA on either side are sequenced.

Analytical Volume:


Special Instructions

Links to:



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: Mucopolysaccharidosis Type IIIA/Sanfilippo Syndrome A via the SGSH Gene
Reference Test Number: 459
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery