Mutations in the SHOX gene, located on the pseudoautosomal regions of the X and Y chromosomes (Xp22.3 and Yp11.3), cause SHOX-related haploinsufficiency disorders. Mutations/deletions can be identified in ~70% of individuals with LWD. SHOX-related haploinsufficiency disorders are inherited in a pseudoautosomal dominant manner.
Individuals who have mutations in two copies of the SHOX gene have Langer mesomelic dysplasia (LMD). LMD is much more severe than LWD and is characterized by severe short stature and severe skeletal dysplasia.
- Confirmation of a clinical diagnosis of SHOX-related haploinsufficiency disorders.
- Carrier testing in adults with a family history of SHOX-related haploinsufficiency disorders.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.