Invitae NIPS for Singleton Pregnancies (chromosomes 13, 18, 21)
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000569432.3
CAP
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-02-17
Last annual review date for the lab: 2023-10-10 LinkOut
At a Glance
Screening
Complete trisomy 21 syndrome; 4p partial monosomy syndrome; 5p partial monosomy syndrome; ...
15q11.2 deletion syndrome (Angelman syndrome/Prader-Willi syndrome); 1p36 deletion syndrome; 22q11.2 deletion syndrome (DiGeorge syndrome); 47,XXX (Triple X syndrome); 47,XXY (Klinefelter syndrome); ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Women that are interested in learning risks of developing chromosomal …
Not provided
Not provided
Ordering Information
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
71001
How to Order: Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
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: 11
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 11
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Target population: Help
Women that are interested in learning risks of developing chromosomal abnormalities to their offspring
Recommended fields not provided:
Technical Information
Test Procedure: Help
Nucleic acid extraction, DNA sequencing, and analysis of sequencing results to determine fetal aneuploidy.
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
Our technology, which uses whole-genome sequencing, offers a failure rate of less than 2%.
Assay limitations: Help
This is a screening test that looks only for specific chromosomal abnormalities. A normal result does not eliminate the possibility that the pregnancy is associated with other chromosomal or subchromosomal abnormalities, birth defects, genetic conditions, or other conditions, such as open neural tube defects or autism. There is a small … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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