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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 Top or EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants


Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: at least 1 µg of purified DNA at a concentration of at least 100 µg/ml.

Minimum Vol:


Note: Send blood promptly to 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 label to vacutainer and store in CPA sendouts refrigerator box


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


Specimen Type Temperature Time
Whole Blood Room temp

48 hours

  Refrigerated 1 w




STAT Performed TAT
N  Drawn daily 3 - 4 w


Performing Laboratory



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

Phone Number:    (715) 387-0484


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 overnight, ambient temperature. PreventionGenetics accepts Saturday delivery


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