The Postnatal Cytogenetic Section performs constitutional chromosome analysis and microarray analysis on venous blood samples.
Referral Indications
Microarray Studies
- Global Developmental Delay (Please note; Microarray studies are not a screening tool. They will only be used in cases with a confirmed diagnosis: Please see our Cytogenomics page for more information)
- Multiple congenital abnormalities suggestive of a chromosome abnormality
- Microdeletion or duplication syndromes
G-Banded Chromosome (karyotyping) Studies
- Delayed puberty or inappropriate secondary sexual development
- Ambiguous genetalia or indeterminate sex
- Short stature, amenorrhoea in females
- Oligospermia or azoospermia in males
- Family history of a known chromosome abnormality other than simple aneuploidy due to non-disjunction
- Suspected family history of chromosome abnormality where the karyotype of the affected individual is not known
- Sperm and egg donors
Other
- Chromosome breakage studies (Samples should be sent to the Aberdeen Cytogenetics Laboratory. DO NOT SEND TO EDINBURGH LAB. Samples must arrive at the Aberdeen Lab less than 5 days after sampling.)
Referral forms can be downloaded.
Note: Referring clinicians are requested to comply with NHS Lothian policy on Mandatory Data Sets: Failure to do so will result in delays in processing or rejection of the sample.
Any special requirements (e.g. Molecular Cytogenetic (FISH), urgent result) must be discussed by telephone with either Head of Service (0131 537 2993) or Head of Section (0131 537 2998) before taking and sending the sample.
Arrange for immediate transport to the Laboratory. If this is not available, blood specimens should be placed in a cool place or at 5°C in a refrigerator (DO NOT FREEZE). It is advisable to telephone the Laboratory on 0131 537 1940 to alert the Laboratory as, occasionally, specimens are lost during transport.
Rapid Trisomy Analysis
Rapid QF-PCR trisomy screening can be offered in addition to the karyotyping service where there is a clear indication of Trisomy 21. Any other referrals for this service must be discussed with Clinical Genetics
Male Factor Infertility Kit
Y chromosomal microdeletions are the second most common cause of male infertility after Klinefelter’s syndrome with deletion frequencies varying between 2 and 10% in azoospermic men, dependent on patient selection (Krausz et al., 2013).
Clinically relevant deletions have been identified in three regions of the Y chromosome, AZFa, AZFb and AZFc.
Testing of Y microdeletion by QF-PCR is available for patients with azoospermia (sperm concentrations < 2×10^6/ml).
Please note: This test requires 2-5mL of peripheral blood in an EDTA tube.
Details of Limitations of Cytogenetic investigations are available.
