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IriSight™ for Pregnancy Loss
Clinical Genetic Test
Help
offered by
Variantyx, Inc.
View lab's test page
LinkOut
GTR Test Accession: Help GTR000597487.6
INHERITED DISEASE
Last updated in GTR: 2023-11-06
View version history
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
Hereditary disease; Miscarriage; Ultrasound anomalies
Chromosomal regions/ Mitochondria (2): Help
Human genome; Mitochondrion
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Patients with a pregnancy loss (any trimester), patients with recurrent …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Variantyx, Inc.
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
RPG100
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Christine Stanley, PhD, FACMG, Medical Director
christine.stanley@variantyx.com
+1 617-209-2090
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
IriSight™ for Pregnancy Loss orders are initiated at https://www.variantyx.com/connect-with-us/. Following submission, a clinical coordinator will get in touch to facilitate collection of the sample, test requisition and informed consent forms.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
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 strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 2
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Mutation scanning of select exons
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
Diagnosis
Target population: Help
Patients with a pregnancy loss (any trimester), patients with recurrent pregnancy loss, patients with a previously affected child or pregnancy and experiencing a pregnancy loss, fetuses with ultrasound anomalies or other abnormal screening.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are categorized as pathogenic, likely pathogenic or a variant of uncertain significance (VUS) utilizing the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines as published by Richards et al 2015.

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, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit at 30X mean mappable coverage.
Test Comments: Help
This test includes repeat expansion analysis of 5 loci: AR, DMPK, FMR1, FXN and PHOX2B
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed in-house

Test performance comments
DNA extraction is performed at The Center for Human Genetics Inc. Sequencing performed using Illumina TruSeq DNA PCR-Free whole genome sequencing performed at Variantyx Inc.
Analytical Validity: Help
IriSight™ for Pregnancy Loss is a whole genome sequence based test designed to identify genetic variants that correlate with pregnancy loss, prenatal findings and/or are predicted to result in severe, early onset genetic disorders. This test includes sequence analysis (single nucleotide variants, deletions/insertions, characterized intronic variants); copy number variants, duplications/deletions, … 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 Variantyx Genomic Intelligence Platform

Laboratory's policy on reporting novel variations Help
Test results will only be released to the ordering healthcare provider and additional healthcare provider(s) indicated on the test requisition form.
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: Not Applicable
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.