Smith-Magenis syndrome FISH
GTR Test Accession: Help GTR000529037.4
Last updated in GTR: 2016-11-02
Last annual review date for the lab: 2023-09-26 LinkOut
At a Glance
Smith-Magenis syndrome
Cytogenetics - FISH-metaphase: Fluorescence in situ hybridization (FISH)
People with symptoms consistent with SMS
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Lab contact: Help
Whitney Neufeld-Kaiser, Genetic Counselor
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.
How to Order: Help
The requisition is found under the how to order URL. We are able to receive specimens 24 hours a day, 7 days a week. Please call the lab at 206-598-4488 for further information.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Marker Chromosome Identification
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
People with symptoms consistent with SMS
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not applicable to this test.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No. Not applicable to this test.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. Not applicable to this test.
Is research allowed on the sample after clinical testing is complete? Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validity is 99%
Assay limitations: Help
This probe set is specific to chromosome 17p11.2. Other chromosomal imbalances will not be detected.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
As part of CAP accreditation, proficiency testing is performed two times per year. The laboratory is provided with approximately 6 unknown specimens for testing each year, and results are returned to CAP for evaluation. The UW Cytogenetics and Genomics Laboratory has consistently participated and successfully identified the expected abnormalities in … View more
Software used to interpret novel variations Help
Not applicable to this test.

Laboratory's policy on reporting novel variations Help
Not applicable to this test.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: IUO - Investigational Use Only. The performance characteristics of this product have not been established.
FDA Review of (Item reviewed): ASR - Analyte Specific Reagent(s)
FDA Regulatory Status: FDA exempt
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.