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Yq microdeletion
Clinical Genetic Test
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offered by
Molecular Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000257064.4
INHERITED DISEASEREPRODUCTIVE HEALTH
Last updated in GTR: 2024-10-02
View version history
Last annual review date for the lab: 2024-10-02 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Spermatogenic failure, Y-linked, 2
Chromosomal regions/ Mitochondria (1): Help
Yq11.2
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: PCR with allele specific hybridization
Target population: Help
Males presenting with azoospermia (no sperm) or oligozoospermia (too few …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Claudia Carriles, MS, Certified Genetic counselor, CGC, Genetic Counselor
ccarriles@sharedhealthmb.ca
204-787-4033
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
4 mL EDTA whole blood; shipped at room temperature
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
2 multiplex PCRs performed on all patients (sY84, sY86, sY127, sY134, sY254, sY255, ZFX/Y, SRY) If AZFa deletion suspected, perform reflex multiplex PCR (sY82, sY1064, sY1065, sY88, ZFX/Y). If AZFb deletion suspected, perform reflex multiplex PCR (sY105, sY121, sY1192, sY153, ZFX/Y). If AZFc deletion suspected, perform reflex multiplex PCR (sY160, … View more
View citations (2)
  • EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Simoni M, et al. Int J Androl. 2004;27(4):240-9. doi:10.1111/j.1365-2605.2004.00495.x. PMID: 15271204.
  • EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Krausz C, et al. Andrology. 2014;2(1):5-19. doi:10.1111/j.2047-2927.2013.00173.x. PMID: 24357628.
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
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 *
Deletion/duplication analysis
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Males presenting with azoospermia (no sperm) or oligozoospermia (too few sperm).
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Test Procedure: Help
2 multiplex PCRs, 3 reflex multiplex PCR as required.
View citations (2)
  • EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Simoni M, et al. Int J Androl. 2004;27(4):240-9. doi:10.1111/j.1365-2605.2004.00495.x. PMID: 15271204.
  • EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Krausz C, et al. Andrology. 2014;2(1):5-19. doi:10.1111/j.2047-2927.2013.00173.x. PMID: 24357628.
Test Comments: Help
Testing for AZFa, AZFb and AZFc regions by multiplex PCR
This clinical service test is available to Canadian residents only.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy (18/18) = 100%; Specificity (5/5) = 100%; Sensitivity (13/13) = 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
EMQN provides PT specimens once per year. In-house testing of internally blinded samples performed once per year.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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