Sign in →

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/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: 15 µg of purified DNA at a concentration of at least 20 µg/ml

Minimum Vol: 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml


Note: Send 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: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole Blood Room temp

48 h

  Refrigerated 1 w




STAT Performed TAT
N  Drawn daily 18 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: 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