Classic view of this page
Standard karyotype (pediatric)
Clinical Genetic Test
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offered by
Allele Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000524029.7
CAP
INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2022-05-26
View version history
Last annual review date for the lab: 2023-05-18 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (16): Help
Congenital chromosomal disease; Asperger syndrome, susceptibility to; Autism spectrum disorder; ...
Chromosomal regions/ Mitochondria (6): Help
Chromosome 13; Chromosome 18; Chromosome 21; Human genome; Sex chromosome X, sex chromosome Y; ...
Methods (1): Help
Cytogenetics - Karyotyping: G-banding
Target population: Help
Individuals with a clinically suspected chromosomal aneuploidy. Individuals with normal …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Guidance for management; Reproductive decision-making
Ordering Information
Offered by: Help
Allele Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
200
View other test codes
Lab contact: Help
Annie Morton, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
info@allelediagnostics.com
844-255-3532
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
For specimen requirements and information on specimen handling and shipping, please visit our website at https://www.allelediagnostics.com/ordering/sample-requirements/. Test requisitions may be printed from our website (https://www.allelediagnostics.com/ordering/requisition/) and are required to be sent with the sample. Our secure online portal allows providers the option of both placing test orders and receiving reports …
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Order URL
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy, Test development
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 6
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 utility: Help
Establish or confirm diagnosis
View citations (1)
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, et al. Genet Med. 2010;12(11):742-5. doi:10.1097/GIM.0b013e3181f8baad. PMID: 20962661.

Guidance for management
View citations (1)
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, et al. Genet Med. 2010;12(11):742-5. doi:10.1097/GIM.0b013e3181f8baad. PMID: 20962661.

Reproductive decision-making
View citations (1)
  • Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. Laurino MY, et al. J Genet Couns. 2005;14(3):165-81. doi:10.1007/s10897-005-3241-5. PMID: 15959648.

Target population: Help
Individuals with a clinically suspected chromosomal aneuploidy. Individuals with normal microarray, to exclude low-level mosaicism or a de novo alteration that may result in a position effect. Family members of a proband with a known cytogenetic abnormality or individuals with a family history that suggests chromosomal rearrangements.
View citations (2)
  • Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. Laurino MY, et al. J Genet Couns. 2005;14(3):165-81. doi:10.1007/s10897-005-3241-5. PMID: 15959648.
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, et al. Genet Med. 2010;12(11):742-5. doi:10.1097/GIM.0b013e3181f8baad. PMID: 20962661.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, 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
This test is evaluated for analytical validity using an established validation process utilizing abnormal and normal specimens as per CAP, ACMG, and CLIA guidelines. For standard postnatal constitutional karyotype analysis 20 cells are counted, 5 cells analyzed, and 3 cells are karyotyped. In cases where mosaicism is suspected, additional cells … View more
View citations (2)
Assay limitations: Help
A limitation of this test is that the structural abnormalities must be large enough to be visible under the microscope. The resolution of this technology – the minimum size of a missing or extra chromosome piece that can be visualized – is approximately 5-10 megabases (Mb).
View citations (3)
  • High resolution comparative genomic hybridisation in clinical cytogenetics. Kirchhoff M, et al. J Med Genet. 2001;38(11):740-4. doi:10.1136/jmg.38.11.740. PMID: 11694545.
  • Array comparative genomic hybridization in global developmental delay. Shevell MI, et al. Am J Med Genet B Neuropsychiatr Genet. 2008;147B(7):1101-8. doi:10.1002/ajmg.b.30730. PMID: 18361433.
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, et al. Genet Med. 2010;12(11):742-5. doi:10.1097/GIM.0b013e3181f8baad. PMID: 20962661.
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
VUS:
Laboratory's policy on reporting novel variations Help
Reports are faxed to the ordering physician and other providers indicated on the requisition form. Telephone calls are made for critical results and as per internal protocols.
Recommended fields not provided:
Test Confirmation, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.