Y chromosome microdeletion by PCR method

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Detects Yq microdeletions.

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Y Chromosome Microdeletion by PCR Method - Comprehensive Test Guide

Why is it done?
- Test Purpose: Detects deletions in the Y chromosome that are associated with male infertility, particularly azoospermia (absence of sperm) and oligospermia (low sperm count)
- Primary Indications: Evaluation of infertile males with abnormal semen analysis; investigation of non-obstructive azoospermia or severe oligospermia
- Common Clinical Scenarios: Couples with unexplained infertility; men presenting to fertility clinics; genetic counseling for infertile males; assessment before assisted reproductive techniques
- Timing: Performed when semen analysis shows abnormalities; typically ordered after initial infertility workup; results guide treatment planning and genetic counseling decisions
- Specific Target Regions: Tests for deletions in azoospermia factor regions (AZF-a, AZF-b, AZF-c) which are critical for spermatogenesis
Normal Range
- Normal Result: No deletion detected (NEGATIVE) - indicates presence of normal Y chromosome sequences in AZF-a, AZF-b, and AZF-c regions
- Reference Values: Y chromosome regions present and intact; normal DNA sequence detected by PCR amplification; all markers amplified successfully
- Units of Measurement: Qualitative analysis; presence/absence of DNA sequences; expressed as detected or not detected
- Test Regions Evaluated: AZF-a region (3.5 Mb), AZF-b region (1.5 Mb), AZF-c region (3.5 Mb) - all should be present in normal males
- Abnormal Result: Microdeletion detected (POSITIVE) - indicates loss of DNA sequences in one or more AZF regions; associated with impaired spermatogenesis
- Clinical Interpretation Categories: Negative (no deletions), Positive (one or more deletions detected)
Interpretation
- Negative Result (No Deletions Detected): Indicates normal Y chromosome structure; Y-linked azoospermia is not the cause of infertility; other causes should be investigated (hormonal factors, obstructive azoospermia, environmental factors)
- AZF-a Microdeletion: Accounts for 5-10% of Y microdeletions; typically results in complete azoospermia (no sperm production); poor prognosis for natural conception; may require testicular sperm extraction for assisted reproduction
- AZF-b Microdeletion: Represents 1-2% of Y microdeletions; usually associated with non-obstructive azoospermia; severe spermatogenic failure; unfavorable outcomes for fertility
- AZF-c Microdeletion: Most common, representing 60-70% of Y microdeletions; associated with oligospermia or azoospermia; variable severity; some men retain residual spermatogenesis; better prognosis compared to AZF-a/b deletions
- Multiple Deletions: Deletions spanning multiple AZF regions indicate severe spermatogenic defects; very poor prognosis for natural or assisted conception
- Partial/Gr/gr Deletions: Submicroscopic deletions in AZF-c region; gr/gr deletion associated with reduced sperm count; some deletions may be polymorphic variants; requires correlation with clinical findings
- Factors Affecting Results: DNA quality and quantity from patient sample; PCR primer design and sensitivity; contamination or sample degradation; age of sample; ethnic background variations in deletion frequency
- Clinical Correlation Required: Test results must be interpreted with semen analysis findings, hormonal profiles, and clinical presentation; some deletions may be benign variants; genetic counseling recommended for positive results
- Inheritance Pattern: Y chromosome deletions are paternally inherited; affected males pass deletion to all sons; important for family planning and genetic counseling
Associated Organs
- Primary Organ System: Male reproductive system; specifically the testes where spermatogenesis occurs
- Directly Affected Organs: Testes (primary site of sperm production); epididymis (sperm maturation and storage)
- Conditions Associated with Abnormal Results: Non-obstructive azoospermia (NOA); severe oligospermia; testicular atrophy; male factor infertility; primary testicular failure
- Related Pathological Conditions: Spermatogenic arrest; hypospermatogenesis; maturation arrest; testicular hypoplasia; reduced testicular volume
- Associated Complications: Infertility (primary complication); implications for family planning; transmission of deletion to offspring; psychological impact on affected individuals
- Endocrine Considerations: May have altered FSH and LH levels; some deletions may correlate with Leydig cell dysfunction; testosterone levels often normal but variable
- Extra-gonadal Manifestations: Most Y microdeletions affect only spermatogenesis; some studies suggest possible associations with other organ systems requiring further investigation
- Impact on Reproductive Health: Significant implications for natural conception; affects assisted reproductive options; influences genetic counseling; impacts decision-making regarding fertility treatments
Follow-up Tests
- If Results are Negative: Hormonal panel (FSH, LH, testosterone, prolactin); karyotype analysis (evaluate for chromosomal abnormalities); testicular biopsy if non-obstructive azoospermia; imaging studies (scrotal ultrasound, vasography)
- If Results are Positive: Repeat testing for confirmation; FSH level measurement (prognostic indicator); testicular ultrasound; genetic counseling recommended; family genetic testing if appropriate
- Confirmatory Testing: Array comparative genomic hybridization (aCGH) for precise deletion mapping; fluorescence in situ hybridization (FISH) for confirmation; multiplex ligation-dependent probe amplification (MLPA)
- Hormone Testing: Follicle Stimulating Hormone (FSH) - elevated levels indicate testicular dysfunction; serum testosterone; luteinizing hormone (LH); free/bioavailable testosterone if indicated
- Imaging Studies: Scrotal ultrasound to assess testicular volume and structure; transrectal ultrasound if obstruction suspected; Doppler ultrasound for vascular assessment
- Semen Analysis Monitoring: Repeat semen analysis for comparison; assessment of sperm count, motility, morphology; post-ejaculate urinalysis if retrograde ejaculation suspected
- Genetic and Chromosome Analysis: Conventional karyotype to exclude Klinefelter syndrome; whole genome sequencing if complex deletions; family pedigree analysis for inheritance patterns
- Fertility Treatment Planning: Consultation with reproductive endocrinologist; consideration of IVF with ICSI (intracytoplasmic sperm injection); testicular sperm extraction (TESE) or micro-TESE evaluation; pre-genetic diagnosis discussion if applicable
- Genetic Counseling: Counseling for affected males and partners; family risk assessment; discussion of inheritance in male offspring; prenatal diagnostic options if desired
- Monitoring Frequency: Not routinely repeated unless initial sample quality questionable; FSH monitoring may be periodic if sperm production attempted; annual semen analysis if pursuing fertility; no change expected in deletion status over time
Fasting Required?
- Fasting Status: NO - Fasting is NOT required for this test
- Sample Type: Buccal swab (oral mucosa cells) or blood sample; can be collected at any time of day without regard to meals
- Patient Preparation: No special dietary preparation needed; patient may eat and drink normally prior to test; no fasting period required
- Medications: No medications need to be discontinued; current medications will not affect test results; patient may take all prescribed medications as scheduled
- Pre-test Instructions for Buccal Swab: Rinse mouth with water 5 minutes before sample collection; do not eat, drink, chew gum, or smoke for 30 minutes before swab collection; allows for optimal DNA extraction
- Pre-test Instructions for Blood Sample: May eat and drink normally; fasting provides no additional benefit; sample collection can be performed at any time of day
- Additional Preparation Notes: Bring valid photo identification; inform provider of ethnic background if available; disclose any previous genetic testing; note current/recent antibiotics if applicable (minimal impact)
- Timing Considerations: Sample collection typically takes 5-10 minutes; results available in 2-4 weeks depending on laboratory; no time-sensitive collection window required
- Contraindications: No absolute contraindications; test can be performed in virtually all males; blood collection may be modified for patients with clotting disorders or phobia

How our test process works!