Y Chromosome Microdeletion PCR

Diagnostic Use

An average of 10% of couples consults infertility clinics. In about half of these cases, sperm production is defective, either quantitatively or qualitatively. Approximately one third to one half of these cases are classified as idiopathic. The deletion of the AZF (azoospermia factor) is thought to be pathogenetically involved in some cases of male infertility associated with azoospermia or severe oligozoospermia. Microdeletions of Yq have been used to define three non-overlapping regions associated with a failure of spermatogenesis, termed AZFa, AZFb and AZFc. Y-chromosome-specific, sequence-tagged site (STS) PCR markers can identify microdeletions in DNA from peripheral blood lymphocytes of infertile males.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

Azoospermia factor
Male infertility
MICY

Turnaround Time

4 weeks

Test Code

7100

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Analysis and interpretation of this assay requires knowledge of the biological sex of the patient being tested. Please assist us in delivering quality results by providing accurate biological sex information on all referrals for this testing.

Test Method

Multiplex PCR of Yq STSs from AZFa, AZFb, and AZFc regions followed by gel electrotrophoresis.

Non-Funded Test Cost

$336.21 (Exclusive of GST)

Billing Code

7100

Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.

Contact Information

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