Classic view of this page
MaterniT21
Clinical Genetic Test
Help
offered by
Integrated Genetics – Sequenom
View lab's test page
LinkOut
GTR Test Accession: Help GTR000501985.4
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2024-11-01
View version history
Last annual review date for the lab: 2024-11-01 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (12): Help
Advanced maternal age gravida; 5p partial monosomy syndrome; Chromosome 1p36 deletion syndrome more...
Chromosomal regions/ Mitochondria (11): Help
1p36; 22q11.2; 5p15.2; Chromosome 13; Chromosome 15 more...
Methods (1): Help
Molecular Genetics - Targeted variant analysis: 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
Integrated Genetics – Sequenom
View lab's website
View lab's test page
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Contact Sequenom laboratories for collection kit.
Order URL
Informed consent required: Help
Yes
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, Test development
Conditions Help
Total conditions: 12
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 11
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Novaseq X Plus
Clinical Information
Test purpose: Help
Screening
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report
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?
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
DNA Sequencing of Maternal Plasma to Detect Down syndrome: An International Clinical Validation Study (1696 samples); Positive Results: 210 of 212 for trisomy 21 (Sensitivity: 99.1%; Specificity: 99.9%) DNA Sequencing of Maternal Plasma Reliably Identifies Trisomy 18 and Trisomy 13, as well as Down syndrome: An International Collaborative Study (1988 … View more
View citations (3)
  • Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012;14(3):296-305. doi:10.1038/gim.2011.73. Epub 2012 Feb 02. PMID: 22281937.
  • Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012;32(8):730-4. doi:10.1002/pd.3892. Epub 2012 May 14. PMID: 22585317.
  • Sequenom Center for Molecular Medicine, submitted for publication, 2013.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
Sequenom
VUS:
Software used to interpret novel variations Help
Proprietary Internal Software

Laboratory's policy on reporting novel variations Help
Provider ordering the test will be contacted by the Medical Director
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number:
Status: Pending
Additional Information
Consumer resources:

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.