Chromosome 7-Related Russell-Silver Syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000501987.2
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2014-03-25
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Diagnosis
Silver-Russell syndrome 1
7p12.1; 7q32.2; Chromosome 7
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MGZ Medical Genetics Center
View lab's website
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 3
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Uniparental disomy study (UPD)
Other
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Comments: Help
Microsatellite analysis
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity >95%, specifity >95%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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