G-Banded Chromosome Analysis - Clinical Genetic Test - GTR

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G-Banded Chromosome Analysis

Clinical Genetic Test

offered by

Cytogenetics Laboratory

View lab's test page

GTR Test Accession: GTR000520908.7

CAP

INHERITED DISEASEREPRODUCTIVE HEALTHSYNDROMIC DISEASE ... View more

Last updated in GTR: 2023-12-11

Last annual review date for the lab: 2024-09-18

At a Glance

Test purpose:

Diagnosis; Recurrence; Risk Assessment

Conditions (16):

Advanced maternal age gravida; Anomaly of sex chromosome; Autosomal chromosomal disorder more...

Chromosomal regions/ Mitochondria (6):

Chromosome 13; Chromosome 18; Chromosome 21; Human genome; Sex chromosome X more...

Methods (1):

Cytogenetics - Karyotyping: G-banding

Target population:

Individuals with a personal or family history of infertility or …

Clinical validity:

G-banded chromosome analysis will detect polyploidies, aneuploidies, large balanced alterations …

Clinical utility:

Establish or confirm diagnosis; Reproductive decision-making

Ordering Information

Offered by:

Cytogenetics Laboratory
View lab's website
View lab's test page

Specimen Source:

Amniocytes
Amniotic fluid
Bone marrow
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:

Genetic Counselor
Health Care Provider
Licensed Dentist
Licensed Physician
Nurse Practitioner
Physician Assistant
Registered Nurse

Lab contact:

Whitney Neufeld-Kaiser, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
whitneyn@uw.edu
206-598-8684

Contact Policy:

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:

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:

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Balanced Chromosome Rearrangement Studies
Marker Chromosome Identification
Result interpretation
X-Chromosome Inactivation Studies

Test additional service:

Custom Prenatal Testing

Test development:

Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)

Informed consent required:

Test strategy:

Consider reflex testing to cytogenomic microarray analysis when chromosome analysis is normal in a child being evaluated for a recognized aneuploidy syndrome.

Pre-test genetic counseling required:

Post-test genetic counseling required:

Recommended fields not provided:

Test Order Code

Conditions

Total conditions: 16

Condition/Phenotype	Identifier

Test Targets

Chromosomal regions/Mitochondria

Total chromosomal regions/mitochondria: 6

Chromosomal region/Mitochondrion	Associated condition

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Karyotyping

G-banding

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Recurrence; Risk Assessment

Clinical validity:

G-banded chromosome analysis will detect polyploidies, aneuploidies, large balanced alterations (i.e. reciprocal translocations, Robertsonian translocations, inversions, balanced insertions), and large unbalanced translocations, duplications and deletions.

Clinical utility:

Establish or confirm diagnosis

View citations (1)

Laboratory guideline for Turner syndrome. Wolff DJ, et al. Genet Med. 2010;12(1):52-5. doi:10.1097/GIM.0b013e3181c684b2. PMID: 20081420.

Reproductive decision-making

View citations (1)

http://link.springer.com/article/10.1007%2Fs10897-005-3241-5

Target population:

Individuals with a personal or family history of infertility or 2 or more unexplained pregnancy losses; individuals with features consistent with aneuploidy syndromes, such as Down syndrome, Klinefelter syndrome, or Turner syndrome; individuals with a family history of an aneuploidy syndrome or chromosome rearrangement (for example a translocation or an … View more

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
Parental chromosome analysis is requested when a rare polymorphism is detected in the proband.

Are family members with defined clinical status recruited to assess significance of VUS without charge?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
No.

Research:

Is research allowed on the sample after clinical testing is complete?
No

Sample reports:

Sample Positive Report
Sample Positive Report

Recommended fields not provided:

Sample negative report

Technical Information

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Band resolution of 450-850

Assay limitations:

The standard cytogenetic methodology used in this analysis does not routinely detect subtle rearrangements, low-level mosaicism (note that screening of additional cells can be ordered if mosaicism is suspected), or microdeletions and microduplications below the resolution of the banding level. This test will not detect either point mutations or DNA … View more

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method:
As part of CAP accreditation, proficiency testing is performed three times per year. The laboratory is provided with approximately a dozen constitutional 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 … View more

Recommended fields not provided:

Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: Not Applicable

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

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.