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
Or call 020 7183 2362
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 South Kensington Medical and Dental, our CQC-registered clinic in South Kensington, London SW7. 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.
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 Old Brompton Road, directly opposite South Kensington tube station (Piccadilly, Circle, and District lines). A referral from a clinical neurologist or clinical geneticist is required — please call 020 7183 2362 to arrange.
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How It Works
Book Online
Choose a convenient date and time
Visit Our Clinic
20 Old Brompton Road, South Kensington
Quick Blood Draw
Professional phlebotomy, 5 minutes
Get Results
Results in 9 weeks"
Frequently Asked Questions
Common questions about this blood test
Visit Our London Clinic
Central London location with excellent transport links
Address
South Kensington Medical & Dental
20 Old Brompton Road
South Kensington
London SW7 3DL
Getting Here
- 2-minute walk from South Kensington tube
- Circle, District & Piccadilly lines
Opening Hours
- Monday, Wednesday9am - 6pm
- Tuesday, Thursday9am - 8pm
- Friday8am - 5pm
- Saturday10am - 4pm
- Sunday10am - 4pm
Contact
Ready to Book Your Test?
No GP referral needed. Book online and get tested at our South Kensington clinic. 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.
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At South Kensington Medical & Dental, we are fully registered with the Care Quality Commission (CQC) and our clinicians are registered with the relevant UK regulatory bodies, including the GDC and GMC. Our dentists, dental nurses and medical professionals deliver care that meets the highest clinical, safety and ethical standards, because our patients deserve nothing less.
