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PTPN11-related Noonan Syndrome
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000500738.4
IMMUNOLOGYINHERITED DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Noonan syndrome 1
Genes (1): Help
PTPN11 (12q24.13)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Pathogenic variants in the coding region of PTPN11 gene are …
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
selected exons
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2235
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 *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Pathogenic variants in the coding region of PTPN11 gene are found in around 45% in unrelated individuals with sporadic or familial Noonan Syndrome.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002;70(6):1555-63. doi:10.1086/340847. Epub 2002 May 01. PMID: 11992261.

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:
Target population, 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
By analyzing these twelve exons as well as exons 3, 8 and 13 (code number 2236) in the PTPN11 gene, all variants in the coding region of this gene can be identified. Sequencing allowes the detection of point variants in these exons with an analytical sensitivity of 100%.
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.