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MaterniT GENOME
Clinical Genetic Test
Help
offered by
Integrated Genetics – Sequenom
GTR Test Accession: Help GTR000569955.1
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2020-01-09
View version history
Last annual review date for the lab: 2023-11-28 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (23): Help
Congenital chromosomal disease; 11q partial monosomy syndrome; 4p partial monosomy syndrome more...
Analytes (1): Help
celll free DNA
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
Test short name: Help
Genome
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
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 SCMM for collection kit.
Order URL
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 23
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Screening
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
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?, 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
The MaterniT® GENOME test utilizes the same proprietary technology as the MaterniT® 21 PLUS test, with deeper sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT® GENOME test was equivalent in performance for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
Proprietary Internal Software

Laboratory's policy on reporting novel variations Help
Person ordering the test will be contacted by the Medical Director
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
Practice guidelines:
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.