Private Charcot-Marie-Tooth Type 1A - PMP22 duplications Blood Test London
Charcot-Marie-Tooth Type 1A - PMP22 duplications is a private test offered at our CQC-registered clinic in Marylebone, London. It should be ordered and interpreted by a registered clinician based on your symptoms and clinical context.
Charcot-Marie-Tooth Type 1A - PMP22 duplications
Test fee £680 + £50 phlebotomy fee (per visit)
- Results in 6 weeks"
- UKAS accredited laboratory
- Professional phlebotomy service
- Confidential results portal
Genetic Test — Lab Approval Required
This genetic test is subject to referral acceptance by our partner laboratory. After you book, our team will contact you to collect your full medical history and obtain the laboratory's acceptance before your appointment is confirmed. For this reason, appointments must be booked at least 2 days in advance. Your booking remains provisional until confirmed — no payment is taken when booking, and if the laboratory is unable to accept the referral, no sample is taken and nothing is charged.
Specialist referral required — 020 7183 0692
Pay at clinic on the day of your appointment
Charcot-Marie-Tooth Type 1A - PMP22 duplications – Private Testing in London
The Charcot-Marie-Tooth Type 1A PMP22 duplication test is available at Wimpole Street Medical and Dental, our CQC-registered clinic in Marylebone, London W1G. This test is priced at £680. A £50 phlebotomy fee applies per visit for blood collection. It requires a venous blood sample, and results are typically available within 6 weeks. A referral from a clinical neurologist or clinical geneticist is required before this test can be ordered.
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy, caused by a duplication of the PMP22 gene on chromosome 17p. This test detects the characteristic 1.5 Mb tandem duplication responsible for approximately 70% of all CMT1 cases.
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.
Booking online: your appointment is provisional. Before your visit, our team will contact you to collect your full medical history and obtain acceptance from our partner laboratory. For this reason, the earliest bookable date is 2 days ahead — same-day and next-day appointments are not available for this test. No payment is taken when booking; if the laboratory does not accept the referral, no sample is taken and nothing is charged.
Questions? Call us on 020 7183 0692 — we're happy to help.
Who Should Consider CMT1A PMP22 Duplication Testing?
Individuals with progressive distal muscle weakness and wasting, foot deformity (pes cavus), reduced reflexes, and sensory loss suggestive of hereditary motor and sensory neuropathy. Those with nerve conduction studies showing a demyelinating pattern. Family members of confirmed CMT1A patients seeking carrier or predictive testing.
CMT1A follows autosomal dominant inheritance, meaning each child of an affected parent has a 50% chance of inheriting the condition. Genetic counselling is recommended before and after testing to discuss implications for the individual and family members.
A trained nurse collects the blood sample by standard venepuncture at our clinic on Wimpole Street, directly opposite Wimpole Street tube station (Piccadilly, Circle, and District lines). A referral from a clinical neurologist or clinical geneticist is required — please call 020 7183 0692 to arrange.
Genetic Investigation
Charcot-Marie-Tooth Type 1A - PMP22 duplications provides genetic information that should be ordered alongside appropriate genetic counselling and clinical assessment.
- Family history of the condition
- Personal symptoms suggestive of the condition
- Confirmation of a clinical diagnosis
- Carrier or reproductive risk assessment
- Specialist clinical genetics workup
- Clinician-directed testing
How It Works
Book Online
Choose a convenient date and time
Visit Our Clinic
22 Wimpole Street, Wimpole Street
Quick Blood Draw
Professional phlebotomy, 5 minutes
Get Results
Results in 6 weeks"
Frequently Asked Questions
Common questions about this blood test
Visit Our London Clinic
Central London location with excellent transport links
Address
Wimpole Street Medical & Dental
22 Wimpole Street
Wimpole Street
London W1G 8GQ
Getting Here
- 2-minute walk from Wimpole Street 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?
A specialist referral is required for this test. Book online (provisional — our team will confirm laboratory acceptance before your visit) or call us. Results within 6 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, we are in the process of registering 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.
