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Chromosome Analysis, Amniotic Fluid
Clinical Genetic Test
Help
offered by
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's test page
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GTR Test Accession: Help GTR000593807.4
CAP
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-08-24
View version history
Last annual review date for the lab: 2023-07-14 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (323): Help
Congenital chromosomal disease; 10q partial trisomy syndrome; 11q partial monosomy syndrome; ...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Cytogenetics - Karyotyping: G-banding
Target population: Help
Fetus with suspected aneuploidy or other numerical/structural chromosomal abnormality. Fetus …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's website
View lab's test page
Test short name: Help
Amnitoic fluid karyotype, Amniotic fluid karyotyping, Amnio chro
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
AFST
View other test codes
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
Submit a sample with a completed requisition form. Label sample and form with at least two patient identifying information, such as name and date of birth. If POC sample from pregnancy loss (non-viable pregnancy), please label sample and form with mother's ID.
Order URL
Test service: Help
Custom Balanced Chromosome Rearrangement Studies
    Comment: Additional charges apply
Custom Deletion/Duplication Testing
    Comment: Additional charges apply
Mosaicism Study (Extended Cell Count, 50-Cell Study)
    Comment: Additional charges apply
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
Reflex to microarray analysis available
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 323
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Karyotyping
G-banding
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Fetus with suspected aneuploidy or other numerical/structural chromosomal abnormality. Fetus with ambiguous genitalia. Fetus with family history of structural chromosome rearrangement, such as a reciprocal translocation, Robertsonian translocation, and pericentric inversion.
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.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Minimal band resolution is 425 bands. This test analyzes 15 metaphase cells (from 15 different colonies, when possible) to identify numerical and structural chromosome abnormalities and can detect mosaicism down to 20% of cells at 95th confidence interval. Mosaicism study (50-cell extended cell count evaluation) available, which can detect mosaicism … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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.