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Chromosome Analysis, Congenital Disorders
Clinical Genetic Test
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offered by
Sanford Medical Genetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000613423.1
CAP
REPRODUCTIVE HEALTHSYNDROMIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2024-10-24
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Last annual review date for the lab: 2024-10-24 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (13): Help
Congenital chromosomal disease; Ambiguous genitalia; Autism spectrum disorder more...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Cytogenetics - Karyotyping: G-banding
Target population: Help
Individuals with concern for congenital chromosome abnormalities, including autosomal aneuploidy …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Sanford Medical Genetics Laboratory
View lab's test page
Test short name: Help
Karyotype
Specimen Source: Help
  • Cord blood
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
LBOR0216
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Call Sanford Client support at (605) 328-5499
Order URL
Informed consent required: Help
Based on applicable state law
Test strategy: Help
G-banded chromosomes are examined, and karyotypes are written following ISCN nomenclature
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test development
Conditions Help
Total conditions: 13
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
Individuals with concern for congenital chromosome abnormalities, including autosomal aneuploidy (such as Trisomy 13 (Patau Syndrome), Trisomy 18 (Edward Syndrome), Trisomy 21 (Down Syndrome)) or sex chromosomal aneuploidy (such as Klinefelter syndrome (XXY) or Turner syndrome (X)); Individuals with ambiguous genitalia; Individuals with multiple miscarriages to assess for balanced chromosome … View more
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
Test Procedure: Help
Mitosis is stimulated in culture. After incubation, a mitotic inhibitor is added to arrest the cells in metaphase. A hypotonic solution is added to increase cell volume at harvest and the cells are fixed. Cell synchronization methods are incorporated to ensure uniform progression through the cell cycle by the cultures … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Karyotyping is able to detect chromosome abnormalities as small as 4–6 Mb. Smaller changes require the use of other cytogenetic techniques. At the 500-550 band-level of resolution, the limit for the detection of genomic rearrangements is estimated above 5–10 Mb in regions where the band pattern is distinctive (Di Gregorio … View more
Assay limitations: Help
Chromosomes at the 400-700 band-level of resolution generally have a detection limit of 5-10 megabases in regions where the banding pattern is distinctive. The detection limit may be adversely affected in regions lacking contrasting bands. Smaller genomic abnormalities may not be detected via G-banded chromosome studies (cryptic abnormalities). Some chromosomal … 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
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Citations to support 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
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.