GTR Test Accession:
Help
GTR000265086.1
Registered in GTR:
2013-05-06
View version history
GTR000265086.1,
registered in GTR:
2013-05-06
Last annual review date for the lab: 2024-04-16
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (1):
Help
Spermatogenic failure, Y-linked, 2
Sex chromosome Y
Methods (1):
Help
Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test short name:
Help
AZF
Specimen Source:
Help
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
Test Order Code:
Help
Y chromosome microdeletion
Lab contact:
Help
Susan Christian, PhD, Certified Genetic counselor, CGC, Genetic Counselor
susan.christian@albertaprecisionlabs.ca
780-407-1015
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
margaret.lilley@albertahealthservices.ca
780-407-1015
Pamela Blumenschein, MS, Certified Genetic counselor, CGC, Genetic Counselor
pamela.blumenschein@albertaprecisionlabs.ca
780-407-1015
susan.christian@albertaprecisionlabs.ca
780-407-1015
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
margaret.lilley@albertahealthservices.ca
780-407-1015
Pamela Blumenschein, MS, Certified Genetic counselor, CGC, Genetic Counselor
pamela.blumenschein@albertaprecisionlabs.ca
780-407-1015
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.
Informed consent required:
Help
No
Pre-test genetic counseling required:
Help
Yes
Post-test genetic counseling required:
Help
No
Recommended fields not provided:
How to Order,
Test strategy,
Test development
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 *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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 Comments:
Help
Microsatellite analysis for Y deletions
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
95% sensitvity. 5-10% of male factor infertility is due to Y microdeletions
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
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
Additional Information
Clinical resources:
Molecular 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.