Classic view of this page
PreSeek™ Non-invasive Prenatal Gene Sequencing Screen
Clinical Genetic Test
Help
offered by
Baylor Genetics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000552480.4
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2024-07-19
View version history
Last annual review date for the lab: 2023-07-21 Past due LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (48): Help
LEOPARD syndrome 1; Achondroplasia; Acrocephalosyndactyly type I more...
Genes (30): Help
BRAF (7q34); CBL (11q23.3); CDKL5 (Xp22.13); CHD7 (8q12.2); COL1A1 (17q21.33) more...
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
Baylor Genetics
View lab's website
View lab's test page
Specimen Source: Help
  • Peripheral (whole) blood
Test Order Code: Help
21200
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
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, Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 48
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 30
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
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
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
The study design for determining the accuracy, sensitivity, and specificity of the PreSeek assay was based on the detection of fetal variants by comparison of the sequencing results of plasma DNA and genomic DNA of parental samples (from both patient and spike-in samples) in 42 trios. Analytical sensitivity and specificity … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Laboratory's policy on reporting novel variations Help
Novel variants are reported.
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
NYS CLEP Approval: Help
Number:
Status: Pending
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.