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IFISH for Aneuploidy (Products of Conception)
Clinical Genetic Test
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offered by
Cytogenetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000529047.4
CAP
INHERITED DISEASESYNDROMIC DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2020-09-23
View version history
Last annual review date for the lab: 2024-09-18 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (12): Help
Miscarriage; Autosomal chromosomal disorder; Complete trisomy 13 syndrome more...
Chromosomal regions/ Mitochondria (7): Help
Chromosome 13; Chromosome 18; Chromosome 21; Chromosome 22; Human genome more...
Methods (1): Help
Cytogenetics - FISH-interphase: Fluorescence in situ Hybridization
Target population: Help
Patients who have had a spontaneous miscarriage, intrauterine fetal demise, …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Cytogenetics Laboratory
View lab's website
View lab's test page
Test short name: Help
Pregnancy Loss Pathway
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • 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
Test Order Code: Help
Pregnancy Loss Pathway
View other test codes
Lab contact: Help
Whitney Neufeld-Kaiser, MS, CGC, 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
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
No
Test strategy: Help
If IFISH is normal, we recommend reflexing to a chromosomal SNP microarray analysis, a service provided by the closely affiliated Clinical Cytogenomics Laboratory at the University of Washington. See our website for complete details on the Pregnancy Loss Pathway.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Conditions Help
Total conditions: 12
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 7
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 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
Patients who have had a spontaneous miscarriage, intrauterine fetal demise, or stillbirth for which there is no known cause. Chromosome abnormalities such as trisomy 16, monosomy X, and triploidy are common causes of pregnancy loss. Diagnosing a genetic abnormality as the cause of miscarriage allows for more accurate recurrence risk … View more
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.
Recommended fields not provided:
Clinical validity, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
The Pregnancy Loss Pathway begins with IFISH for chromosomes 13, 15, 16, 18, 21, 22, X, and Y. If that result is normal, we recommend proceeding to chromosomal SNP microarray analysis, a service provided by the closely affiliated Clinical Cytogenomics Laboratory at the University of Washington. If the IFISH result … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validity is 99%
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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.