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کاریوتایپ خون
Clinical Genetic Test
Help
offered by
Razi Pathobiology & Medical Genetics laboratory
GTR Test Accession: Help GTR000613129.1
REPRODUCTIVE HEALTHDYSMORPHOLOGYENDOCRINOLOGY ... View more
Registered in GTR: 2024-01-04
View version history
At a Glance
Test purpose: Help
Diagnosis
Conditions (8): Help
Disorder of sex development of gynecological interest; Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening; Klinefelter syndrome more...
Chromosomal regions/ Mitochondria (6): Help
45,x; 46,xx; 46,xy; 47,xxy; 47,xy, +21 more...
Methods (1): Help
Cytogenetics - Karyotyping: G-banding
Target population: Help
کاریوتایپینگ به عنوان یک آزمایش برای شناسایی و تشخیص اختلالات …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Razi Pathobiology & Medical Genetics laboratory
View lab's website
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Out-of-State Patients
  • Public Health Mandate
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Visit the online reception page
Order URL
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 8
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)

Target population: Help
کاریوتایپینگ به عنوان یک آزمایش برای شناسایی و تشخیص اختلالات کروموزومی در اختلالات جنسی، هیپوسپادیاس پروگزیمال، سندرم ترنر، سندرم داون، سندرم کلاین فلتر، سقط های مکرر و الیگواسپرمی و آزواسپرمی استفاده می شود.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, 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
Accuracy and reliability of the test is 99.9%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

CAP Testing Information Help
CAP/ACMG Cytogenetics, Booklet; Chromosomal abnormalities; CYBK
CAP/ACMG Cytogenetics, Booklet; Karyotype nomenclature; CYBK
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
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.