Care at NUH

Undiagnosed Case Service

2025/07/14

 

Our Undiagnosed Case Service team aims to help find a diagnosis in patients with mysterious conditions that have yet been given a diagnosis.

Reaching a diagnosis in such patients may help the patient and family with closure, understand more about the condition, and hopefully point to more specific treatment if such treatment is available.

 

Our Team

This service is supported by all paediatricians in the Department of Paediatrics at NUH. The specific team that consults with the patient is determined by the patient's symptoms. The composition of this team for each consultation is coordinated by experienced doctors.

Head & Senior Consultant

Senior Consultants

What To Expect At Your First Appointment

The workflow for the clinic is as follows:

  1. The patient, parent or referring doctor contacts us via email.
  2. Depending on the information provided, arrangements will be made for the patient to be seen as an outpatient or as an inpatient.
Outpatient

If you or your child were to be seen as an outpatient, arrangements will be made for you or your child to come to the clinic to be seen by a doctor who has knowledge on rare conditions, particularly genetic disorders. 

Review by other members of the multidisciplinary medical team will be arranged as needed. You will be advised on the cost of the consultation. Investigations such as genetic testing, whole exome sequencing or whole genome sequencing may be offered depending on the doctors' assessment after the consult. The costs of these investigations are not included in the consultation fee.

Inpatient

If you or your child were to be seen as an inpatient, arrangements will be made for you or your child to be admitted. We usually admit patients who require many inputs from different specialists. You will be advised on the estimated cost of the admission. The cost consists of doctors' fees and investigations such as genetic testing, whole exome sequencing, whole genome sequencing etc.

Find Us

Khoo Teck Puat – National University Children’s Medical Institute

For directions to the Khoo Teck Puat – National University Children’s Medical Institute, including access via MRT, drop-off points and parking information, click here.

For more information on our paediatric clinic or contact details, click here.

To make an appointment online, click here.

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