Phelan-McDermid Syndrome - karyotype + FISH Blood Test Marylebone
From 1 October 2026 — until then book at South Kensington or St Paul's. South Kensington · St Paul's
£1501
+ £50 phlebotomy fee (per visit)
+ £50 phlebotomy (per visit)
Confidential Results
Secure online portal
Fast Results
12-17 days"
Professional Service
Experienced phlebotomists
Wimpole Street, Marylebone (opening 1 October 2026)
Opening hours from 1 October 2026
- Monday
- 9am – 6pm
- Tuesday
- 9am – 8pm
- Wednesday
- 9am – 6pm
- Thursday
- 9am – 8pm
- Friday
- 8am – 5pm
- Saturday
- 10am – 4pm
- Sunday
- Closed
- Bond Street — about 6 minutes (Central, Jubilee & Elizabeth lines)
- Oxford Circus — about 7 minutes (Central, Bakerloo & Victoria lines)
Wimpole Street, Marylebone
People looking into chromosome 22 deletion and genetic disorder testing in Marylebone are usually looking for the Phelan-McDermid Syndrome - karyotype + FISH. It belongs to our genetic testing group and needs a venous blood sample (heparin), which a nurse or phlebotomist collects at 22 Wimpole Street, Marylebone once the clinic opens on 1 October 2026. The laboratory typically returns a result in 12-17 days, and the standard price is £1,501 with no members’ tier.
Phelan-McDermid Syndrome - karyotype + FISH’s place in genetic testing testing
- Sample
- venous blood sample (heparin)
- Laboratory turnaround
- 12-17 days
- Appointment
- 20 minutes
- Standard price
- £1,501 + £50 phlebotomy per visit
Who considers Phelan-McDermid Syndrome - karyotype + FISH
- People often consider genetic testing if several relatives have had the same cancer, especially breast, ovarian, bowel or prostate cancer at a young age.
- Couples planning a family may seek carrier screening for conditions such as cystic fibrosis, spinal muscular atrophy or Tay-Sachs, particularly where ancestry raises the likelihood.
- Those with a personal or family history of heart muscle disease, sudden death or very high cholesterol frequently ask about cardiac and lipid gene panels.
- Unexplained neurological, developmental or metabolic symptoms sometimes lead a specialist to recommend a targeted panel.
- Anyone about to start a medicine with known genetic variability in response, such as clopidogrel or certain antidepressants, may check a pharmacogenomic profile.
What Phelan-McDermid Syndrome - karyotype + FISH measures
The catalogue tags the Phelan-McDermid Syndrome - karyotype + FISH with chromosome 22 deletion, genetic disorder testing and fluorescence in situ hybridization. Those terms describe the territory the test covers; the notes below explain what a genetic testing result can and cannot tell you.
Genetic tests read DNA to look for variants associated with inherited conditions, cancer predisposition, carrier status or drug response. Approaches range from single-gene sequencing and targeted variant checks (HFE for haemochromatosis, MTHFR, Factor V Leiden) through next-generation sequencing panels covering dozens of genes linked to a condition, to chromosome analysis, array CGH and whole genome sequencing. Pharmacogenomic tests such as CYP2C19 predict how you metabolise particular medicines, and HLA typing identifies immune-system genes relevant to autoimmune disease, drug hypersensitivity and transplantation.
Preparing for your Phelan-McDermid Syndrome - karyotype + FISH
- 1A pre-test discussion is recommended: results can have implications for relatives, insurance and future planning, and it helps to think these through before sampling.
- 2Some panels require written informed consent, which the nurse will go through with you; bring details of the family history including which relatives were affected and at what age.
- 3No fasting is needed; most tests use an EDTA blood sample, and a few use a cheek swab.
- 4Allow for a longer turnaround than routine bloods — panels and whole genome sequencing can take many weeks.
Sample for this test: venous blood sample (heparin).
Understanding your Phelan-McDermid Syndrome - karyotype + FISH results
A pathogenic or likely pathogenic variant can indicate a raised risk of the associated condition, but for most genes it does not mean the condition is certain, and the level of risk varies widely. Variants of uncertain significance are common on larger panels and are reported as findings whose meaning is not yet known; they should not be acted upon alone. A negative result reduces but does not eliminate risk, since not every relevant gene or variant is covered, and family history still counts.
Genetic results are probabilistic, have implications for relatives and can affect insurance under the UK Code on Genetic Testing; discussion with a genetic counsellor or specialist before and after testing is strongly advised.
Related areas of testing at Wimpole Street: tumour markers, clotting and specialist haematology, cholesterol and lipids, pregnancy-related tests.
Pricing
Phelan-McDermid Syndrome - karyotype + FISH
Individual test
Phlebotomy Fee
Blood draw by qualified phlebotomist (per visit)
Total
£1551Payment is collected at the clinic. The phlebotomy fee is charged once per visit, regardless of the number of tests booked.
From booking the Phelan-McDermid Syndrome - karyotype + FISH to reading your result
- 1
Choose your test
Select the Phelan-McDermid Syndrome - karyotype + FISH and any others you want run from the same visit. Until 1 October 2026 the identical test can be booked at South Kensington or St Paul’s.
- 2
Nurse-led sample
From 1 October 2026 the venous blood sample (heparin) is taken at 22 Wimpole Street, Marylebone by our nursing team, led by Precious Agbonmamwen, Registered Adult Nurse (NMC 20H1641E). Identity is checked and any preparation questions answered first.
- 3
UKAS-accredited laboratory
The sample travels to a UKAS-accredited partner laboratory, whose methods and reference ranges match those used across the NHS and private sectors.
- 4
Laboratory report to your secure portal
The laboratory report is released to your secure portal — typically from 24 hours; the laboratory quotes 12-17 days for this test. It shows each value against the reference range and flags anything outside it; discuss the report with your GP or a clinician.
Why test at Wimpole Street
Wimpole Street Medical & Dental opens at 22 Wimpole Street on 1 October 2026. Medical services are for patients aged 16 and over; registration with the CQC is in progress ahead of opening.
Wimpole Street, Marylebone (opening 1 October 2026)
- Bond Street — about 6 minutes (Central, Jubilee & Elizabeth lines)
- Oxford Circus — about 7 minutes (Central, Bakerloo & Victoria lines)
- The same catalogue already runs at South Kensington and St Paul’s, so you can test now and move your records to Marylebone later.
- Bond Street is about six minutes on foot and Oxford Circus about seven, so the clinic suits people working across the West End.
- Self-referral: you choose the test and book directly — no GP referral is needed, and the laboratory report is yours to take to your GP or a clinician.
Other tests often considered alongside Phelan-McDermid Syndrome - karyotype + FISH
- Chromosome Y Deletion – AZFa, AZFb, AZFc + SRYWimpole Street, Marylebone · from 1 October 2026
- Colorectal Cancer NGS PanelWimpole Street, Marylebone · from 1 October 2026
- Comparative Genomic Hybridisation (CGH) SNP arrayWimpole Street, Marylebone · from 1 October 2026
- Congenital Absence of Vas Deferens - karyotype + Y deletions + cystic fibrosis screen (+ polyT(5T) when clinically relevant)Wimpole Street, Marylebone · from 1 October 2026
Frequently Asked Questions
A venous blood sample (heparin). A nurse or phlebotomist collects it at 22 Wimpole Street, Marylebone from 1 October 2026; the appointment allows time for identity checks and any preparation questions. The laboratory quotes 12-17 days for this test.
Ready to Book Your Test?
Wimpole Street opens 1 October 2026. Register your interest for the Marylebone diary, or book the same test now at South Kensington or St Paul's.
Important information about the Phelan-McDermid Syndrome - karyotype + FISH at Wimpole Street
- Medical services at Wimpole Street Medical & Dental are for patients aged 16 and over.
- This is a self-referral service: you choose the test and book directly — no GP referral is needed.
- Nurse-led by Precious Agbonmamwen, Registered Adult Nurse (NMC 20H1641E), who oversees sample-taking standards, infection control and the patient pathway. The nursing team does not interpret results.
- A laboratory result is not a diagnosis and this page is not a substitute for medical advice. We do not provide clinical interpretation of results — please discuss your report with your GP or a clinician, particularly if a value is flagged or you have symptoms.
- CQC registration for Wimpole Street is in progress ahead of the opening on 1 October 2026; our South Kensington and St Paul’s clinics are CQC registered.
- Your results are held on a secure portal and treated as strictly confidential, except where disclosure is required by law.
- If you are seriously unwell, call 999. For urgent advice that is not an emergency, call NHS 111.
