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GTR Home > Tests > NOONAN SYNDROME

Overview

Test order codeHelp: Noonan Panel

Test name

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NOONAN SYNDROME

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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When genetic diagnosis is indicated by meeting the clinical criteria required and / or requested by the received genetic counselling, the procedure to follow is as follows: send a 25-ml blood sample during 24h post-extraction at room temperature, frozen lymphocites or 8µg DNA together with order form at laboratory address. Previous contact with Dra. Castellanos is higlhy recommended.
Order URL Help: http://www.germanstrias.org/technology-services/diagnostics-hereditary-cancer/es-index/

Specimen source

Cell culture
Chorionic villi
Cord blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
White blood cell prep

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Guidance for management

Reproductive decision-making

Predictive risk information for patient and/or family members

Lifestyle planning

Clinical validity

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Not provided

Testing strategy

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1)Once we will have the necessary documentation (order form, informed consent and pedigree for familiar cases), the physician / researcher applicant will receive an e-mail confirming the cost of the study to be performed. 2) In case of compliance, the physician / investigator applicant must respond to this e-mail, which will act as an undertaking to pay the requested study. 3) Once the acceptance is available, the study of the gene requested will be start. 4) Once the genetic analysis will be finished, the physician / researcher courier applicant will receive a report on the results of tests. At this time, the bill of genetic study will be issued, referring it to the address shown in the Billing section of the order form. Should it be necessary to specify in the bill the order number, line costs or other requirements, must be given in accordance email if they have not been mentioned in the order form. 000 When genetic diagnosis is indicated by meeting the clinical criteria required and / or requested by the received genetic counselling, the procedure to follow is as follows: send a 25-ml blood sample during 24h post-extraction at room temperature, frozen lymphocites or 8µg DNA together with order form at laboratory address. Previous contact with Dra. Castellanos is higlhy recommended.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Data Storage and Backup
  • Result interpretation
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.