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Silver-Russel Syndrome (11p15)
Clinical Genetic Test
Help
offered by
Amsterdam UMC Genome Diagnostics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500491.3
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2015-07-30
View version history
Last annual review date for the lab: 2024-04-16 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Silver-Russell syndrome 1
Genes (1): Help
H19 (11p15.5)
Methods (1): Help
Molecular Genetics - Methylation analysis: High-Resolution Melting Analysis (HRMA)
Target population: Help
Not provided
Clinical validity: Help
Hypomethylation at IC1 on the paternal chromosome is detected in …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC Genome Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
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
Using our website
Order URL
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
No
Test strategy: Help
Methylation analysis of imprinting centre 1 (upstream of the H19 promoter)
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test
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 *
Methylation analysis
High-Resolution Melting Analysis (HRMA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
Hypomethylation at IC1 on the paternal chromosome is detected in 30%-50% of individuals with SRS.
View citations (1)
  • H.M. Saal, GeneReviews.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not Applicable

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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
This method gives 100% concordance as compared with Southern Blotting. It is at least as sensitive as Southern Blotting in detecting mosaic aberrant methylation.
View citations (1)
  • Alders M, Bliek J, vd Lip K, vd Bogaard R, Mannens M. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur J Hum Genet. 2009;17(4):467-73. doi:10.1038/ejhg.2008.197. Epub 2008 Oct 15. PMID: 18854861.
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, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.