Chromosome analysis - Clinical Genetic Test - GTR

Genetic Testing Registry

View Advanced Search Options

Classic view of this page

Chromosome analysis

Clinical Genetic Test

offered by

Cytogenetics and Molecular Diagnostics

GTR Test Accession: GTR000611976.1

CAP

CANCERREPRODUCTIVE HEALTHURINARY SYSTEM DISEASE ... View more

Last updated in GTR: 2023-09-19

Last annual review date for the lab: 2024-02-05

At a Glance

Test purpose:

Diagnosis; Monitoring; Predictive; ...

Conditions (7):

Multiple congenital anomalies; Anomaly of sex chromosome; Autosomal chromosomal disorder; ...

Chromosomal regions/ Mitochondria (1):

Chromosome Analysis

Methods (1):

Cytogenetics - Karyotyping: G-banding

Target population:

Not provided

Clinical validity:

Establish or confirm diagnosis

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Cytogenetics and Molecular Diagnostics
View lab's website

Specimen Source:

Amniocytes
Amniotic fluid
Bone marrow
Cell culture
Chorionic villi
Fresh tissue
Peripheral (whole) blood
Product of conception (POC)
Skin
View specimen requirements

Who can order:

Health Care Provider
Licensed Physician

How to Order:

Instructions for Specimen Collection, Transportation and/or Storage Chromosome Analysis and FISH Study- 1. Peripheral Blood: Collect about 10ml (if adult) or at least 2ml (if newborn) of peripheral blood through vein puncture into a dark green (sodium heparin) vacutainer. Label the tube with the patient’s name, date of birth, and date of collection. 2. Bone Marrow: Obtain at least 2ml of bone marrow with sufficient spicules into a dark green (sodium heparin) vacutainer. Label the tube with the patient’s name, date of birth, and date of collection. 3. Lymph Node: Submit at least 0.5cm3 piece separated aseptically into a specimen container with sterile saline or RPMI 1640. Send to the laboratory ASAP. Store the sample in a refrigerator at 4°C if there is a delay in transportation. 4. Lymph node. Submit at least 0.5cm3 piece separated aseptically into a specimen container with sterile saline or RPMI 1640. Send to the laboratory ASAP. Store the sample in a refrigerator at 4°C if there is a delay in transportation. 5. Bone Marrow/Peripheral blood smear: For FISH analysis, prepare two smears on a clean positively charged glass slide and immediately air dry, or send it fresh to the laboratory ASAP. 6. Tumor touch preparation: For FISH analysis, prepare two touch preps from a freshly cut surface of tumor tissue on a clean positively charged glass slide and immediately air dry, or send it fresh to the laboratory ASAP. 7. Tumor tissue section from paraffin blocks: Cut sections at not more than 3 micron thick. Use sterile distilled water to float the section, and mount it on the positively charged surface of a clean glass slide without folds. Submit 2-4 slides. 8. Molecular genetic tests: Obtain at least 5ml of peripheral blood into a lavender top (EDTA anticoagulant) tube. Label the tube with the patient’s name, date of birth, and date of collection. Transportation: Submit all specimens to the laboratory ASAP after collection at room temperature. DO NOT EXPOSE THE SPECIMEN TO EXTREME TEMPERATURES (COLD OR HOT) DURING TRANSPORTATION. DO NOT FREEZE THE SPECIMEN. Storage: Specimens collected in the late evening, night or on weekend may be stored at room temperature or in a refrigerator at 4°C. DO NOT FREEZE. Store lymph nodes and tumor tissues in a refrigerator at 4°C at all times. Please call the laboratory with any questions.

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Balanced Chromosome Rearrangement Studies
Custom Deletion/Duplication Testing
Marker Chromosome Identification
Result interpretation

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Yes

Test strategy:

Chromosome analysis will detect all chromosome germline and somatic abnormalities including polyploidies, aneuploidies, balanced rearrangements i.e. reciprocal translocations, Robertsonian translocations, inversions, balanced insertions, and large unbalanced translocations, duplications and deletions. Cytogenomic microarray can be considered when karyotyping results are negative for a pediatric patient.

View citations (1)

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Shaffer LG, et al. Genet Med. 2005;7(9):650-4. doi:10.1097/01.gim.0000186545.83160.1e. PMID: 16301868.

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test Order Code, Lab contact for this test, Contact policy

Conditions

Total conditions: 7

Condition/Phenotype	Identifier

Test Targets

Chromosomal regions/Mitochondria

Total chromosomal regions/mitochondria: 1

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; Monitoring; Predictive; Prognostic; Recurrence; Risk Assessment; Therapeutic management

Clinical validity:

Establish or confirm diagnosis

Clinical utility:

Establish or confirm diagnosis

View citations (1)

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Shaffer LG, et al. Genet Med. 2005;7(9):650-4. doi:10.1097/01.gim.0000186545.83160.1e. PMID: 16301868.

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:

Tests performed
Entire test performed in-house

Analytical Validity:

This test is evaluated for analytical validity using an established validation process utilizing abnormal and normal specimens as per CAP, NYSDOH, and CLIA guidelines. Depends on the specimebn type and resolution the chromosomes are analyzed at 400-700 band resolution. Based on the validation the analytical validity is 95%.

Assay limitations:

Routine chromosome analysis may not detect low levels of mosaicism or subtle structural rearrangements that are not visible at the level of band resolution obtained in this study.

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 and results are returned to CAP for evaluation.

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:

Not provided

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.