Leopard Syndrome (PTPN11 gene)
GTR Test Accession: Help GTR000568241.3
Last updated in GTR: 2020-08-10
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
LEOPARD syndrome 1
Genes (1): Help
PTPN11 (12q24.13)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Not provided
In about 85% of the cases of Leopard Syndrome, a …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
Leopard syndrome
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Marcela Lagos, MD, Lab Director
+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:
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
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
In about 85% of the cases of Leopard Syndrome, a heterozygous missense variant is detected in exons 7, 12 or 13 of the PTPN11 gene.
View citations (1)
  • Sarkozy A, Digilio MC, Dallapiccola B. Leopard syndrome. Orphanet J Rare Dis. 2008;3:13. doi:10.1186/1750-1172-3-13. Epub 2008 May 27. PMID: 18505544.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet. 2002;71(2):389-94. doi:10.1086/341528. Epub 2002 Jun 07. PMID: 12058348.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).

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:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For the validation, 12 patients with Leopard syndrome were analyzed. In 50% of the samples, pathogenic variant of PTPN11 gene were detected in exon 7, 33.3% in exon 12 and 16.6% in exon 13. Sequencing analysis approaches an analytical sensitivity of almost 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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