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FAMILY PLANNING |
HEALTH MANAGEMENT
Full Inherited
Disease Assessment
Understand
Your Genetic
Predisposition
Comprehensive Assessment
298 Inherited Disease Genes, covering:
164 Most Prevalent Recessively Inherited Disorders
88 Inherited Oncogenic Diseases
Carrier Testing
Future family planning
Full Inherited Disease Assessment utilizes the latest molecular genetics technology, Next Generation Sequencing, to efficiently screen and analyze your genes to uncover genetic variants that may be associated with inherited diseases.
This assessment examines 298 genes for mutations that are responsible in a number of inherited diseases, including 164 of the most prevalent recessively inherited disorders and 88 inherited oncogenic diseases.
Early Intervention for Better
Personal Health Management
Cancer Predisposition is an increased likelihood of developing a certain cancer type due to a person’s genetic makeup.

Early screening allows identification of the cancer risk profile, and allows planned lifestyle changes or care management in response to this risk.
Carrier Testing is used to identify individuals who carry one copy of a specific gene mutation that, when present in two copies, causes a genetic disorder.

The test can provide information about a couple’s risk of having a child with a genetic condition.
Cancer Predisposition
(covers 88 inherited oncogenic diseases)
Cancer type
Example
Bone Cancer
Familial Osteosarcoma | Malignant Fibrous Histiocytoma
Breast & Ovarian Cancers
Hereditary Breast-Ovarian Cancers
Colorectal Cancer
Hereditary Adenomatous Polyposis | Hereditary Colorectal Cancers
Endocrine Cancer
Hereditary Thyroid Cancer | Hereditary Adrenal Hyperplasia
Gastrointestinal
Tract Cancer
Hereditary Barrett Esophagus Adenocarcinoma | Hereditary GIST |
Juvenile Polyposis Syndrome
Head & Neck Cancers
Dyskeratosis Congenita | Tuberous Sclerosis
Hematopoietic Cancer
Ataxia Telangetasia | Familial Monocytic Leukemia | Hereditary Acute Myeloid Leukemia |
Hereditary Hodgkin Lymphoma
Kidney Cancer
Birt-Hogg-Dube Syndrome | Hereditary Wilms’ Tumors
Liver Cancer
Hemochromatosis | Porphyria Cutanea Tarda | Tyrosinemia
Nervous System Cancer
Hereditary Medulloblastomas | Hereditary Neuroblastomas | Neurofibromatosis | Retinoblastomas
Skin Cancer
Hereditary Malignant Melanomas | Xeroderma Pigmentosum
Soft Tissue Cancer
Hereditary Infantile Hemangioma | Juvenile Hyaline Fibromatosis | Proteus Syndrome
Carrier Screening
(covers 164 inherited conditions)
Type
No.
Commonly Seen
Cardiac Disorders
2
Cardiomyopathy
Cutaneous Disorders
8
Dyskeratosis Congenita
Developmental Disorders
8
Smith-Lemli-Opitz Syndrome
Endocrine Disorders
6
Adrenal Hyperplasia
Hematologic Disorders
7
Hemophilia
Immunodeficiency
8
Bloom Syndrome
Metabolic Disorders
36
Canavan Disease |
Wilson’s Disease
Neurological Disorders
35
Muscular Dystrophy
Neuromuscular Disorders
1
Myoadenylate Deaminase Deficiency
Ocular Disorders
4
Usher Syndrome
Renal Disorders
5
Polycystic Kidney Disease
Respiratory Disorders
2
Cystic Fibrosis
Hearing Loss
including 2 Common
Disease-Causing Gene
Skeletal Disorders
3
Osteogenesis Imperfecta
Procedures
電話預約
Make an appointment with our clinic
抵達中心後,我們會評估及記錄您的家族
史和疑慮。抽血前,您需要簽署同意書
At the clinic, we will record and assess your family history and your concerns. You will be asked to give consent before our phlebotomist collects your blood
血液樣本會被送到我們的化驗所,並用以
提取高純度的DNA
The blood specimen is sent to the laboratory. DNA is extracted, and enriched using Next-Generation Sequencing technology to prepare for genetic analysis
採用NGS次世代定序技術,進行基因序列 並利用生物資訊進一步分析處理基因數據
Bioinformatics analytic techniques are used to process your genetic data, allowing us to focus on the regions of interest
22個工作天內完成遺傳性心臟疾病風險
評估報告
Report will be ready within 22 working days, containing your risk score of developing inherited conditions
Who should consider the service
Individuals who wish to uncover their genetic makeup for certain inherited conditions and cancer predisposition*
Individuals who have a family history of
inherited diseases, or multiple family members who have been diagnosed
with cancers
Carrier testing for couples in family planning (Concurrent testing with karyotyping and microarray is also available)
誰該考慮此服務
* To screen for a comprehensive cancer conditions, you may also consider: Comprehensive Cancer Assessment
Service Features
Screens 298 genes, 5,834 exons using 11,579 primers
164 Most Common and severe
recessively inherited disorders
88 inherited oncogenic diseases
High Precision
Next Generation Sequencing technology,
with an average depth of 500X-1500X
Reliable Data and Professional Insights
Our team of scientific experts analyzes your genes based on reliable databases to report reliable genetic data and identify the DNA variations that are associated with diseases
Simple
Only 3-5ml of blood is required

As a one stop service, our centre is
equipped with the expertise of cytogenetics
and molecular genetics