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Test Code LAB3788 SHOX Single Gene Analysis

Important Note

Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis.

Clinical System Name

SHOX Single Gene Analysis


Short Stature Homeobox gene
SHOX Sequencing

SHOX Deletion

Langer Mesomelic Dysplasia

Leri-Weill Dyschondrosteosis


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

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL (1.0 mL for small infants)


Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 5 µg in TE buffer or equivalent

Minimum Vol: 2 µg in TE buffer or equivalent

Alternative Specimen (e.g. buccal/saliva):

Alternate Specimen Collection Kits for Genetic Testing


Note: Send blood promptly to Main Lab for processing.

Processing Instructions

Reject due to: Hemolyzed or clotted.

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage location: Do not spin. Affix large Epic 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

3 d

  Refrigerated 7 d


Extracted DNA Room Temp 3-4 d
  Refrigerated 1 y
  Frozen Indefinitely



N 3 - 4 w


Performing Laboratory

Blueprint Genetics

2505 3rd Ave, Suite 204

Seattle, WA 98121


Phone Number: (650) 452-9340


Department: Send Outs

Phone Number: (206) 987-2563

Reference Range

Interpretive report is provided.



Method:  Next Generation Sequencing

Analytical Volume: None specified

Test Strengths and Limitations

Special Instructions

Blueprint Genetics

Clinical Utility


Send Out Instructions

Reference Test Name: SHOX Single Gene Test
Reference Lab Test Code:


Instructions: Send whole blood Monday through Friday to Blueprint Genetics via Delivery Express (Rush).