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SHOX gene, deletions and duplications
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000500675.4
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Leri-Weill dyschondrosteosis
Genes (1): Help
SHOX (Xp22.33)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
Alterarions of SHOX gene are present in 2% to 15% …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
SHOX CNV
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2386
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Alterarions of SHOX gene are present in 2% to 15% of patients with short stature, in 50% to 90% of patients with Leri-Weill dyschondrostosis, and in almost 100% of patients with Turner Syndrome. About 80% of alterations correspond to deletions.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr. 2011;75(2):81-9. doi:10.1159/000324105. Epub 2011 Feb 04. PMID: 21325865.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Alterations of SHOX gene are present in 2% to 15% of patients with short stature, in 50% to 90% of patients with Leri-Weill dyschondrostosis, and in almost 100% of patients with Turner Syndrome. About 80% of alterations correspond to deletions. For validation, 48 patients with clinical diagnosis of LWD and … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.