LP263653-0
BMPR1A & SMAD4 gene
Active
Description
The BMPR1A gene (bone morphogenetic protein receptor, type IA) [HGNC Gene ID:1076] is located on chromosome 10q22.3. SMAD4 gene (SMAD family member 4) [HGNC Gene ID:6770] is located on chromosome 18q21.1. Mutations in BMPR1A and SMAD4 are associated with Juvenile Polyposis syndrome (JPS). Individuals with JPS, have an increased risk for colorectal cancer (40-50%) and gastric cancer (up to 21%, if multiple polyps are identified in the stomach). The risk for small intestinal cancer and pancreatic cancer is also increased. This test detects pathogenic variants in the BMPR1A and SMAD4 genes. Source: Quest Diagnostics Inc.
Basic Part Properties
- Part Name
- BMPR1A & SMAD4 gene
- Part Display Name
- BMPR1A and SMAD4 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2017-10-02
- Construct for LOINC Short Name
- BMPR1A+SMAD4
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen BMPR1A & SMAD4 |
| it-IT | Italian (Italy) | gene BMPR1A & SMAD4 Synonyms: gene BMPR1A e SMAD4 |
| zh-CN | Chinese (China) | BMPR1A 与 SMAD4 基因 Synonyms: BMPR1A & SMAD4 基因 |
| fr-FR | French (France) | BMPR1A et SMAD4 gènes |
| nl-NL | Dutch (Netherlands) | BMPR1A-gen & SMAD4-gen |
| pl-PL | Polish (Poland) | BMPR1A & SMAD4 gen Synonyms: Geny BMPR1A i SMAD4 |
| el-GR | Greek (Greece) | Γονίδιο BMPR1A & SMAD4 Synonyms: Γονίδιο BMPR1A & SMAD4 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://