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Williams-Beuren syndrome, 194050, Autosomal dominant; WBS (Williams syndrome) (Prenatal) (FISH)
Clinical Genetic Test
Help
offered by
Intergen
GTR Test Accession: Help GTR000579607.1
SYNDROMIC DISEASEINHERITED DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2020-05-19
View version history
Last annual review date for the lab: 2024-11-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Williams syndrome
Chromosomal regions/ Mitochondria (1): Help
7q11.25
Methods (1): Help
Cytogenetics - Fluorescence in situ hybridization (FISH): Fluorescence in situ hybridization (FISH)
Target population: Help
Williams-Beuren syndrome, 194050, Autosomal dominant; WBS (diagnosis/ clinical suspition/ etiology …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Intergen
View lab's website
Test Order Code: Help
15836
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:
How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Fluorescence in situ hybridization (FISH)
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Williams-Beuren syndrome, 194050, Autosomal dominant; WBS (diagnosis/ clinical suspition/ etiology investigation/ classification)
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, 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
Probes have a high analytic sensitivity and specificity (>95%).
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, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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