Rare disease assessment and care planning in China
Seeking another opinion on a rare disease or an unresolved diagnosis in China? Bring together the clinical timeline, source investigations and any genetic findings. Explore diagnostic review, multidisciplinary consultation and rehabilitation planning around one clear question. A treatment or medicine listed here does not establish availability or eligibility for your case.

Before arranging rare diseases in China
Explain your main question and prepare the diagnostic timeline, previous source tests and the unresolved question.
Start with a clear review question
Tell us the diagnosis if known, what you have already tried and which reports are available. We help identify the relevant specialist pathway and records needed for hospital review.
Confirm the assessment and estimate
Distinguish diagnostic review from access to a specific therapy. Ask the centre to confirm evidence, eligibility, lawful access and how continuing care would be supported at home. Hospital acceptance, the actual clinical scope and any separately agreed coordination fee need confirmation before booking.
Choose the next step that fits
You can enquire about an opinion, a specialist appointment or treatment arrangements. An optional records-based specialist review is agreed separately; an initial enquiry does not commit you to a paid service.
Start with the right clinical question
Use these four points to organize the case before comparing hospitals, techniques or travel plans.
Find the relevant care pathway
Explore the guides below to prepare records, compare the care pathways and identify questions for specialist review.

Diagnostic pathway
4 guidesIndications, care pathway and records to prepare for specialist review.
→ Whole-Genome Sequencing Review全基因组测序评估Indications, care pathway and records to prepare for specialist review.
→ Metabolic & Biochemical Testing代谢与生化检测Indications, care pathway and records to prepare for specialist review.
→ Pathology Re-Review病理复核Indications, care pathway and records to prepare for specialist review.
→Disease-specific treatment
3 guidesIndications, care pathway and records to prepare for specialist review.
→ Gene Therapy Assessment基因治疗评估Indications, care pathway and records to prepare for specialist review.
→ Orphan Drug Access Review罕见病药物可及性评估Indications, care pathway and records to prepare for specialist review.
→Coordinated long-term care
3 guidesIndications, care pathway and records to prepare for specialist review.
→ Rehabilitation Planning康复方案规划Indications, care pathway and records to prepare for specialist review.
→ Pediatric-to-Adult Transition儿童至成人医疗衔接Indications, care pathway and records to prepare for specialist review.
→Prepare the case before choosing a center
Define the unanswered question
List confirmed findings, excluded diagnoses and the main concern.
Share raw and original data
Provide sequencing files, imaging and specialist reports where available.
Build a coordinated plan
Diagnosis, treatment access, rehabilitation and follow-up should connect.

Top 10 hospitals for rare diseases in China
The published specialty ranking is a useful starting point. The right match still depends on the exact diagnosis, subspecialist, clinician experience and current access.
Second Affiliated Hospital, Zhejiang University
浙江大学医学院附属第二医院First Affiliated Hospital, Fujian Medical University
福建医科大学附属第一医院West China Hospital, Sichuan University
四川大学华西医院Peking University First Hospital
北京大学第一医院Show hospitals ranked 6–10
Tongji Hospital, Tongji Medical College
华中科技大学同济医学院附属同济医院Children’s Hospital of Fudan University
复旦大学附属儿科医院Guangzhou Women and Children’s Medical Center
广州市妇女儿童医疗中心Xinhua Hospital, Shanghai Jiao Tong University
上海交通大学医学院附属新华医院Xiangya Hospital, Central South University
中南大学湘雅医院Use the list as a starting point. Confirm the relevant unit, clinician experience, treatment access and expected pathway after record review.