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 South Kensington, 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
Specialist referral required — 020 7183 2362
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 South Kensington Medical and Dental, our CQC-registered clinic in South Kensington, London SW7. 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 southken@md.co.uk in advance.
Questions? Call us on 020 7183 2362 — 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 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.
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
20 Old Brompton Road, South Kensington
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
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
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 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.
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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.
