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McCune Albright Syndrome
Clinical Genetic Test
Help
offered by
Center for Genetics at Saint Francis
View lab's test page
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GTR Test Accession: Help GTR000502895.6
INHERITED DISEASESYNDROMIC DISEASEMUSCULOSKELETAL ... View more
Last updated in GTR: 2018-10-01
View version history
Last annual review date for the lab: 2021-10-14 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
McCune-Albright syndrome
Genes (1): Help
GNAS (20q13.32)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals exhibiting symptoms consistent with McCune Albright Syndrome. GNAS1 mutations …
Clinical validity: Help
Incidence of these mutations in the GNAS1 gene could be …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Test short name: Help
MAS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Administrator
lhwhetsell@saintfrancis.com
918-502-1730
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Test strategy
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
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130 Capillary Sequencing System
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Incidence of these mutations in the GNAS1 gene could be as high as 50% in blood and 90% in affected tissues for McCune Albright Syndrome.
View citations (1)
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Individuals exhibiting symptoms consistent with McCune Albright Syndrome. GNAS1 mutations at Amino Acid 201 in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in embryo development which produces a monoclonal population of mutated cells within variously affected tissues. Incidence … View more
Recommended fields not provided:
What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Comments: Help
Primer mutagenesis polymerase chain reaction (PCR) and mutation-specific restriction enzyme digestion for mutation enrichment followed by DNA sequencing for confirmation. Due to the mosaic nature of the condition of McCune Albright Syndrome, sequencing without prior enrichment will not detect the mutation. Also, preferred specimen source is affected tissues.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
View citations (1)
Assay limitations: Help
McCune Albright is a mosaic disorder; therefore a negative result in one tissue does not rule out disease. Skin tissue has a significantly lower detection rate than other affected tissues.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.