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Test Code SHOXDD UM SHOX Gene Deletion/Duplication

Important Note

The testing strategy for SHOX deficiency typically includes starting with SHOX gene deletion/duplication analysis, followed by SHOX sequencing if deletion/duplication analysis is normal (see related test below).

Clinical System Name

SHOX gene Deletion/Duplication


Short Stature Homeobox gene
SHOX Deletion/Duplication

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA or Yellow/ACD

Preferred Vol: 3.0 - 5.0 mL

Minimum Vol: 1.0 mL for small infants


Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 5 µg of purified DNA at a concentration of at least 100 µg/ml

Minimum Vol: At least 2 µg of purified DNA at a concentration of at least 100 µg/ml.


Note: Send whole blood promptly to Main Lab for processing.

Processing Instructions

Reject due to: Hemolyzed or clotted.

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location: Do not spin. Affix large Cerner label to tube and store in CPA refrigerator, Send Outs rack.


Off-site collection: Do not spin. Send blood promptly to Lab.


Specimen Type Temperature Time
Whole Blood Room temp

48 h

  Refrigerated 1 w




STAT Performed TAT
N  Drawn daily 20 d


Performing Laboratory


3800 S. Business Park Ave.

Marshfield, WI 54449


Phone Number: (715) 387-0484


Department: Send Outs

Phone Number: (206) 987-2563

Reference Range

Interpretive report is provided.


Method: Array Comparative Genomic Hybridization (aCGH)

Analytical Volume: None specified


Special Instructions


Send Out Instructions

Reference Test Name: Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX gene Deletion/Duplication Testing via aCGH
Reference Test Number:


Instructions: Ship whole blood via FedEx Priority Overnight at ambient temperature. PreventionGenetics accepts Saturday delivery.


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