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Prequel Prenatal Screen
Clinical Genetic Test
Help
offered by
Myriad Genetics, Inc.
View lab's test page
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GTR Test Accession: Help GTR000569206.2
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2019-12-05
View version history
Last annual review date for the lab: 2023-12-27 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (13): Help
4p partial monosomy syndrome; 5p partial monosomy syndrome; Angelman syndrome; ...
Chromosomal regions/ Mitochondria (10): Help
15q11.2; 1p36; 22q11; Chromosome 13; Chromosome 18; ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Myriad Genetics, Inc.
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Order URL
Test service: Help
Genetic counseling
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 13
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 10
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical performance validity of the Counsyl test has been rigorously confirmed by an internal publication for individual conditions: T21 (Sensitivity: 1.0 (.877-1.0), Specificity: 1.0 (.995-1.0), Accuracy: 1.0 (.996-1.0)); T18 (Sensitivity: 1.0 (.735-1.0), Specificity: 1.0 (.996-1.0), Accuracy: 1.0 (.996-1.0)), T13 (Sensitivity: 1.0 (.398-1.0), Specificity: 1.0 (.996-1.0), Accuracy: 1.0 (.996-1.0)).
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
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
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.