Private Facioscapulohumeral Muscular Dystrophy (FSHD) - D4Z4 repeat deletion Blood Test London
Facioscapulohumeral Muscular Dystrophy (FSHD) - D4Z4 repeat deletion testing for genetic diagnosis and treatment planning. Referral from clinical neurologist or clinical geneticist required.
Facioscapulohumeral Muscular Dystrophy (FSHD) - D4Z4 repeat deletion
Test fee £2000 + £50 phlebotomy fee (per visit)
- Results in 9 weeks"
- UKAS accredited laboratory
- Professional phlebotomy service
- Confidential results portal
Specialist referral required – 020 7183 0692
Pay at clinic on the day of your appointment
Facioscapulohumeral Muscular Dystrophy (FSHD) - D4Z4 repeat deletion – Private Testing in London
Facioscapulohumeral Muscular Dystrophy (FSHD) D4Z4 repeat deletion testing is available at Wimpole Street Medical and Dental, our clinic in Marylebone, London W1G. This test is priced at £2000. A £50 phlebotomy fee applies per visit for blood collection. It requires a venous blood sample, and results are typically available within 9 weeks. A referral from a clinical neurologist or clinical geneticist is required before this test can be ordered.
FSHD type 1 is caused by contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35 to between 1 and 10 repeat units (normal individuals have 11-100 repeats). This contraction, on a permissive 4qA haplotype, leads to aberrant expression of the DUX4 gene, causing progressive skeletal muscle weakness primarily affecting the face, shoulder girdle, and upper arms.
Specialist Referral Required
This test requires a referral from a clinical neurologist or clinical geneticist before it can be ordered. Please bring your referral letter to your appointment or email it to wimpolestreet@md.co.uk in advance.
Questions? Call us on 020 7183 0692, we're happy to help.
Who Should Consider FSHD D4Z4 Testing?
Individuals with progressive facial weakness (difficulty whistling, closing eyes tightly), scapular winging, difficulty raising arms above the head, or asymmetric limb weakness. Those with a family history of FSHD seeking diagnostic confirmation or predictive testing.
FSHD type 1 follows autosomal dominant inheritance with variable penetrance. Approximately 10-30% of cases arise from de novo mutations. Genetic counselling is essential to discuss the variable expressivity of the condition, implications for family members, and reproductive options.
A trained nurse collects the blood sample by standard venepuncture at our clinic on Wimpole Street, a short walk from Bond Street and Oxford Circus stations. A referral from a clinical neurologist or clinical geneticist is required, please call 020 7183 0692 to arrange.
Hormone Health Assessment
Hormone levels play a crucial role in metabolism, mood, energy, fertility, and overall wellbeing.
- Hormone imbalance symptoms
- Fertility assessment
- Energy and mood changes
- Metabolism concerns
- Age-related changes
- Treatment monitoring
Your Appointment, Step by Step
Reserve Online
Pick a date and time that fits your diary
Come to Marylebone
22 Wimpole Street, near Bond Street & Oxford Circus
Sample Taken by a Nurse
A brief, gentle blood draw, around 5 minutes
Report Delivered Securely
Results in 9 weeks"
Frequently Asked Questions
What patients most often want to know before this test
Find Us in Marylebone
In the heart of London's Harley Street medical district, moments from Oxford Street
Address
Wimpole Street Medical & Dental
22 Wimpole Street
Marylebone
London W1G 8GQ
Getting Here
- Short walk from Bond Street station (Elizabeth, Central & Jubilee lines)
- Oxford Circus (Victoria, Central & Bakerloo lines) also nearby
Opening Hours (from 1 October 2026)
- Monday, Wednesday9am - 6pm
- Tuesday, Thursday9am - 8pm
- Friday8am - 5pm
- Saturday10am - 4pm
- SundayClosed
Contact
Call to Arrange Your Test
This specialist test requires a referral from a clinical neurologist or clinical geneticist. Please call our team to arrange your appointment. Results within 9 weeks".
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Meet Our Medical Team
Our experienced medical team is fully qualified and registered with the GMC and NMC, delivering safe, high-quality care in line with the highest professional standards.
Because our patients deserve nothing less.
Registered. Regulated. Trusted.
At Wimpole Street Medical & Dental, our clinicians are registered with the relevant UK regulatory bodies, including the GDC, GMC and NMC. Our dentists, dental nurses and medical professionals deliver care that meets the highest clinical, safety and ethical standards, because our patients deserve nothing less.
We Accept All Major Dental Insurances
We accept all major UK dental insurances, including AXA PPP Healthcare Dental Cover, Aviva Dental Insurance, Bupa Dental Cover, Cigna Dental Insurance, Vitality Dental Health Insurance, Unum and Boots Dental Plan Cover. We provide itemised receipts so you can claim back your treatment costs.
