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Test Code GPC3 Seq GPC3 Sequencing

Clinical System Name

GPC3 Sequencing

Synonyms

Simpson-Golabi-Behmel syndrome (SGBS)

Description

Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely.

Sample Requirements

Specimen: Whole Blood

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

Preferred Vol: 5 mL

Minimum Vol: 2 mL

 

Notes

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15μg at a concentration of 20 μg/ml

Minimum Vol:

 

Notes: For tests involving the sequencing of  more than three genes, send an additional 5 µg DNA per gene.  DNA may be shipped at room temperature.Label the tube with the DNA concentration as well as the patient name, date of birth, and/or ID number.  Specify the composition of the solute.

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Store whole blood affixed with a large computer label in the CPA refrigerated send outs rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 48 h
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 4 w

 

Performing Laboratory

Prevention Genetics

Department

Department:  Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

 

Reference Range

Interpretive report is provided.

Methodology

Method: The putative extracellular proteoglycan, glypican-3, is coded by exons 1-8 of the GPC3 gene located on chromosome Xq26. Testing is accomplished by amplifying each coding exon and ~20 bp of adjacent noncoding sequence, then determining the nucleotide sequence using standard dideoxy sequencing methods and a capillary electrophoresis instrument. This test will not reliably detect partial GPC3 gene deletions.

Analytical Volume:

Limitations:

CPT Codes

81479 x1  (updated 3/3/2015 by sstasi) 

Send Out Instructions

Reference Test Name: GPC3 Gene Sequencing
Reference Test Number: 563
Instructions: Ship ambient via FedEx. Keep a copy of the requisition for our records.