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Test Name: | BMPR1A Gene Comprehensive Study |
Compliance: | LDT, RUO |
Test Description: | BMPR1A gene mutations are associated with juvenile polyposis syndrome (JPS). JPS occurs as a result of germline mutations in the bone morphogenetic protein receptor type-1A (BMPR1A) gene, which is related to the transforming growth factor-beta (TGF-beta) signaling pathway. |
Methodology: | PCR-Sanger sequencing analysis and Deletion analysis of BMPR1A gene |
Gene Name: | BMPR1A |
Protein Name: | |
Specimen Requirements: | EDTA Blood (5mL) |
Storage Condition: | Ambient Temperature / 4℃ (if overnight is needed) |
Turn Around Time: | 20 working days from day of specimen received |
OMIM: | |
Genetic Home Reference: | |
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This notice describes how medical information about you may be used and disclosed.
Personal health information or related information released to HKMPDC relating to the services requested may be subjected to re-disclosure by HKMPDC to health care providers, such as doctors, nurses, and others involved in the delivery of the services.
We may also disclose medical information about you to authorised public health or government officials for public health activities as required by law and accreditation body.
Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 1 July, 2023.
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