Detection of Trisomies 21, 13 and 18 in Newborns and sex chromosomes

Description: 
Quantitative fluorescence PCR (QF-PCR) is an efficient and highly accurate method for the rapid detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and triploidy. QF-PCR may also detect mosaicism for these chromosome disorders. Aneuploidy for the X and Y chromosomes can also be investigated where suspected. When chromosome aneuploidy is detected futher analysis of cultured cells is performed by G-banded chromosome analysis.
Clinical details: 
This test is suitable for babies under 1 month old with clinical features of Down syndrome, Patau syndrome, Edwards syndrome or Turner syndrome.
Synonyms or keywords: 
Rapid aneuploidy detection, Karyotyping, Chromosomes, QF-PCR.
Department: 
Location: 
Sample type and Volume required: 
Peripheral blood (2-3ml) in an EDTA and lithium heparin bottles, or 3μg DNA.
Turnaround time: 
1 - 3 working days for QF-PCR; 14 days for G-banded chromosome analysis.
Special sample instructions: 

Request form available at: https://southeastgenomics.nhs.uk/wp-content/uploads/2023/08/SE-GLH-Non-WGS-Genetic-Test-Request-Form-August-2023-v1.5.pdf

  • R26 Likely common aneuploidy
  • R314 Ambiguous genitalia presenting neonatally

Include the relevant R code (above) on the referral form; for further details and the eligibility criteria for testing please see https://www.england.nhs.uk/publication/national-genomic-test-directories/

Cost: 
On application
Time limit for extra tests: 
Do not spin down or freeze samples before sending.
Contacts:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 26/10/2023