Version 2.78

Part Descriptions

LP265695-9   DNMT3A gene
The DNMT3A (DNA methyltransferase 3 alpha) gene [HGNC Gene ID:2978] is located on chromosome 2 at 2p23.3. CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016] [NCBI Gene ID:1788] Source: National Center for Biotechnology Information (NCBI) Gene

LP265695-9   DNMT3A gene
The DNMT3A gene encodes the DNA methyltransferase 3 alpha enzyme involved in establishing DNA methylation patterns during embryogenesis and cellular growth and differentiation. Mutations in the DNMT3A gene are associated with DNMT3A overgrowth syndrome, characterized by pre- and postnatal increased growth, intellectual disability and a distinctive, syndrome-specific facial appearance. PMID: 24614070 Somatic mutations in this gene are associated with a wide variety of hematologic malignancies, including acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), and chronic myelomonocytic leukemia (CMML). The somatic mutations disrupt the normal pattern of methylation in cells, blocking cellular differentiation. PMID: 26072070[MedlinePlus Gene:DNMT3A] Source: Regenstrief LOINC

Fully-Specified Name

Component
DNMT3A gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
DNMT3A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
DNMT3A gene Mut Anl Bld/T
Display Name
DNMT3A gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNMT3A gene targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.78
Last Updated
Version 2.78
Order vs. Observation
Both

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=105940-1