Classic view of this page
Karyotype
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000591296.1
CAP
Registered in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Congenital chromosomal disease
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Cytogenetics - Karyotyping: G-banding
Target population: Help
Not provided
Clinical validity: Help
PMID: 21965346, 17637806
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
Karyotype
Specimen Source: Help
  • Amniotic fluid
  • Bone marrow
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Peripheral (whole) blood
  • Skin
Who can order: Help
  • Licensed Physician
Test Order Code: Help
127, 128, 933, 1861, 1862
Lab contact: Help
Marcela Lagos, MD, Lab Director
[email protected]
+56 223548515
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.
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
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
Clinical validity: Help
PMID: 21965346, 17637806
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet. 2007;15(11):1105-14. doi:10.1038/sj.ejhg.5201896. Epub 2007 Jul 18. PMID: 17637806.

Variant Interpretation:
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:
Target population, 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
For the validation, samples of the external quality control CAP were analyzed, finding 100% concordance in the reported results. The analysis of 25 metaphases allows ruling out mosaicism greater than 12% with 95% confidence limit. The resolution to detect alterations is 5 to 10 Mb.
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, 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.