Skin biopsy

What is a punch skin biopsy?

This is a short procedure to remove a small piece of skin tissue for examination under a microscope. Sometimes it is necessary to grow skin cells (fibroblasts) for more complex analysis. It will be explained to you before the biopsy what type of testing is required.

Why do I need this procedure?

A skin biopsy is usually performed to determine or confirm a diagnosis that cannot be made by blood tests.

What happens on the day?

Your skin biopsy will be carried out as part of your routine clinic visit in the Lysosomal Disorders Unit. Please report to the clinic receptionist upon arrival. During your clinic appointment the doctor will discuss the reasons for the skin biopsy and give you the opportunity to ask any questions.

What does the procedure involve?

A small area of skin is numbed by an injection of local anaesthetic. You may feel a slight burning sensation. Once the area is numb, the skin biopsy needle is gently inserted and about 4mm (less than ¼ inch) of skin is removed. This is usually only felt as a touch sensation. The skin is then sent to the laboratory. The biopsy site may sometimes bleed slightly after the procedure and on rare occasions may be held closed by surgical glue, a small stitch or Steristrip® (paper stitches). A dressing will be placed over the area. The biopsy only takes a few minutes. If you have a stitch it may need removing after a few days. The site may feel uncomfortable for one to two days.

When will I get the test results?

If it is just necessary to look at the cells under the microscope, the results will be available within three weeks or so. More commonly in the Lysosomal Disorders Unit, the tests require growing the skin cells (fibroblasts) and this takes at least six to eight weeks. Genetic analysis or complex tests may have to be sent away to external laboratories and can take many months. Please be reassured that we will give you a follow-up appointment and will let you know as soon as the results become available. Do contact the team on if you have any concerns.

Contact us

LDU Box 135, Addenbrooke’s Hospital, Hills Road, Cambridge. CB2 0QQ

Tel: 01223 274634

Email LDU Cambridge

Please visit the Lysosomal disorders webpage

Please note the department is open Monday to Friday 08:30-17:00.

If you are unwell outside of these hours you should seek medical advice from your local healthcare team.

If your emergency doctor needs specific advice they should call the hospital switchboard on 01223 245151 and ask for the metabolic consultant on call.