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Test Code SHOX Seq SHOX DNA Sequencing Test

Important Note

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

Clinical System Name

SHOX DNA Sequencing Test


Short Stature Homeobox gene
SHOX Sequencing


Short stature is a multifactorial developmental disorder. Short stature homeobox (SHOX)-related haploinsufficiency is a genetic disorder that manifests as short stature with variable clinical severity. The SHOX-related disorders include the severe Langer Mesomelic Dysplasia (LMD; OMIM 249700) characterized by short stature with hypoplasia/aplasia; the Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) characterized by disproportionate short stature with mesomelic shortening in the forearms and lower legs and bilateral Madelung deformity of the wrist; and idiopathic short stature (ISS; OMIM 300582) (Rao et al. Nat Genet 16:54-63, 1997; Shears et al. Nat Genet 19:70-73, 1998; Schiller et al. Eur J Hum Genet 8:54-62, 2000). Intrafamilial phenotypic variability has been reported with SHOX-related haploinsufficiency (Schiller et al. 2000).

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: 15 µg of purified DNA at a concentration of at least 20 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 2 - 3 w


Performing Laboratory



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

Phone Number:    (715) 387-0484


Reference Range

Interpretive report is provided





Method: Sanger Sequencing

Analytical Volume: None specified


Special Instructions





Send Out Instructions


Reference Test Name: Short Stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX gene
Reference Test Number:


Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery