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GTR Home > Tests > RASOPATHY-RELATED SYNDROME

How to order

Test Order CodeHelp: RASopathy panel

How To Order

Laboratory's Test Page

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http://www.germanstrias.org/technology-services/diagnostics-hereditary-cancer/es-index/

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
Order URL Help: http://www.germanstrias.org/technology-services/diagnostics-hereditary-cancer/es-index/

Informed Consent Required Help: Yes

Specimen Source

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

Test Codes

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Not provided

Test Orderable By

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  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate

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.

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

Ordering Requirements

Genetic Counseling Required Pre-test Help
Yes
Genetic Counseling Required Post-test Help
Yes

Contact Policy

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  • Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

Laboratory Contact For This Test

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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.