SHOX Gene Testing

Test name:  SHOX Gene Testing
Also known as: SHOX-Related Haploinsufficiency Disorders: Leri-Weill dyschondrosteosis, Dyschondrosteosis, SHOX-Related Short Stature; Langer mesomelic dysplasia


  • Clinical features of SHOX-related disorders including Leri-Weill dyschondrosteosis (LWD), Dyschondrosteosis, SHOX-related short stature
    • LWD is characterized by a short stature, mesomelia, and Madelung deformity. The Madelung deformity is often seen in childhood and is more severe and common in females.
    • SHOX-related short stature is often disproportionate and can often be seen with similar Madelung deformities of the wrist as seen with LWD.
  • Langer mesomelic dysplasia (LMD) is a pseudoautosomal recessive condition that typically results in severe short stature with shortening of the long tubular bones, aplasia or severe hyperplasia of the ulna and fibula, thickened and curved radius and tibia, and possible mild hypoplasia of the mandible. LMD is caused by homozygous deletions or compound heterozygous mutations of SHOX.
  • Prenatal and postnatal testing for at risk relative of an individual with a previously identified mutation in SHOX.

Test Information: Testing typically begins with FISH for deletion/duplication analysis of a patient suspected to have a SHOX-related haploinsufficiency disorder.  Based on current literature, this methodology should detect that vast majority of SHOX deletions. If a SHOX-related haploinsufficiency phenotype is strongly suggested based on clinical findings and FISH analysis for SHOX is negative, MLPA testing is recommended to interrogate the SHOX gene region for a deletion/duplication too small to be resolved by the FISH assay. The 180K Microarray provides adequate coverage for deletion/duplication analysis in the SHOX gene region; therefore, additional FISH and/or MLPA testing does not need to be ordered separately but may be utilized to confirm an abnormal SHOX result identified using microarray. 

Name of Test Method Additional Information
Deletion/Duplication analysis
  • FISH analysis is recommended as a first tier test, followed by MLPA if FISH is negative and SHOX-related haploinsufficiency phenotype is clinically indicated
  • If microarray is being performed, FISH and/or MLPA do not need to be ordered separately but may be used as confirmatory tests

Additional tests available on postnatal samples (refer to additional pages for details):
          Molecular Testing - refer to Test Catalog for tests offered at HGL
          Coming soon: Next Generation Sequencing  

Specimen requirements:

  • Adult: one 3-5 ml whole blood EDTA (purple top) tube
  • Newborn: one 3-5 ml whole blood EDTA (purple top) tube (minimum 1 ml)

CPT codes:

  • MLPA: 83896x(14), 83900, 83901x(12), 83904*
  • Postnatal FISH for Xp22.3/Yp11.3 (SHOX):
    • Age 0-3 months: 88230, 88271(x2), 88275, 88291
    • Age 3+ months: 88271(x2), 88272, 88275, 88291

*If concurrent G-bands studies are NOT being performed, add 88230.

When requested, additional FISH testing will be performed and additional charges will be assessed. See the Postnatal FISH - including Rapid Aneuploidy FISH and/or Constitutional (Targeted) FISH page for a complete list of available tests.

  • 180K Microarray: 83892(x2), 88230, 88271(x16), 88386

 *Unless using stored DNA from a prior sample, the following DNA Extraction codes (83891, 83894, 83907, 84311) will also apply once for molecular testing.

Pricing: Contact the laboratory billing staff for current costs

Shipping & Handling 

Required forms: Postnatal Test Request Form 

Turn-around time (times are estimates and may change with volume):

  • MLPA: 4 weeks
  • Postnatal FISH: 7 days
  • 180K Microarray: 1-2 weeks 

Additional links: GeneReviews

revised: 7-23-2012 

contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248

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