IFISH for Common Aneuploidies
GTR Test Accession: Help GTR000520909.11
CAP
INHERITED DISEASESYNDROMIC DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2020-09-23
Last annual review date for the lab: 2023-09-26 LinkOut
At a Glance
Diagnosis
Advanced maternal age gravida; Autosomal chromosomal disorder; Complete trisomy 13 syndrome; ...
Chromosome 13; Chromosome 18; Chromosome 21; Sex chromosome X; Sex chromosome Y
Cytogenetics - FISH-interphase: Fluorescence in situ Hybridization
Situations requiring rapid diagnosis of the common aneuploidies (Down syndrome; …
AneuVysion has a sensitivity of 99.9% (860/861) and a specificity …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Manufacturer's name: Help
AneuVysion
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Lab contact: Help
Whitney Neufeld-Kaiser, MS, Certified Genetic counselor, CGC, Genetic Counselor
whitneyn@uw.edu
206-598-8684
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
The requisition is found under the how to order URL. We are able to receive specimens 24 hours a day, 7 days a week. Please call the lab at 206-598-4488 for further information.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Test development: Help
FDA-reviewed (has FDA test name)
Informed consent required: Help
No
Test strategy: Help
An increasingly common testing strategy in prenatal diagnosis is to begin with IFISH for common aneuploidies. If IFISH is normal, testing reflexes to cytogenomic microarray; if IFISH is abnormal, testing reflexes to G-banded karyotyping.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 13
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 5
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
FISH-interphase
Fluorescence in situ Hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
AneuVysion has a sensitivity of 99.9% (860/861) and a specificity of 100% (504/504) for aneuploidies of the chromosomes included in the test.
View citations (1)
  • Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Ward BE, et al. Am J Hum Genet. 1993;52(5):854-65. PMID: 8488836.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Ward BE, et al. Am J Hum Genet. 1993;52(5):854-65. PMID: 8488836.

Target population: Help
Situations requiring rapid diagnosis of the common aneuploidies (Down syndrome; Turner syndrome due to 45,X; trisomy 13; trisomy 18; XXX; XXY; XYY)
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not applicable to this test.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No. Not applicable to this test.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. Not applicable to this test.
Research:
Is research allowed on the sample after clinical testing is complete? Help
No.
Sample reports:
Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The limit of detection for the AneuVysion kit in interphase cells is estimated to be 3%. No crosshybridization to other chromosome loci was observed in any of the 705 cells examined; hybridization was limited to the target regions of chromosomes 13, 18, 21, X, and Y.
View citations (1)
  • https://www.molecular.abbott/sal/30-608368-R5-AneuVysion.pdf
Assay limitations: Help
The AneuVysion kit is indicated for identifying and enumerating chromosomes 13, 18, 21, X, and Y via FISH in metaphase cells and interphase nuclei obtained from amniotic fluid in subjects with presumed high risk pregnancies. It is not intended to be used as a stand alone assay for making clinical … View more
View citations (1)
  • Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Ward BE, et al. Am J Hum Genet. 1993;52(5):854-65. PMID: 8488836.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
As part of CAP accreditation, proficiency testing is performed two times per year. The laboratory is provided with approximately 6 unknown specimens for testing each year, and results are returned to CAP for evaluation. The UW Cytogenetics and Genomics Laboratory has consistently participated and successfully identified the expected abnormalities in … View more
VUS:
Software used to interpret novel variations Help
Not applicable to this test.

Laboratory's policy on reporting novel variations Help
Not applicable to this test.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: IVD - In Vitro Device.
FDA Review of (Item reviewed): Test kit(s)
FDA Regulatory Status: FDA cleared/approved
Application number: K010288
Additional Information

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