GeneTests Editorial Policies
Synonyms
Disease synonyms for GeneReview entries are unique
in PubMed and have been used in the medical literature
within the last ten years.
Hierarchy
Staff determine the hierarchical display of disorders
on the GeneTests Web site.
Molecular Genetic Testing
GeneReviews designates a
molecular genetic test as clinically available only if the
test is listed in the GeneTests Laboratory Directory by
either a US CLIA-licensed laboratory or a non-US clinical
laboratory. GeneTests does not verify laboratory-submitted
information or warrant any aspect of a laboratory's
licensure or performance. Clinicians must communicate
directly with the laboratories to verify information. Test
methods and mutation detection rates included in
GeneReviews are confirmed by
staff in consultation with the author(s) and laboratory
directors.
Molecular Genetics
Molecular genetics data used in GeneReviews and the Laboratory Directory are
those accepted by HUGO Gene
Nomenclature Committee (gene symbol), Online
Mendelian Inheritance in Man (OMIM)
(chromosomal locus), and UniProt (protein
name).
Links are established to relevant entries in online
genomic databases, including Online Mendelian Inheritance in Man (OMIM),
Human Gene
Mutation Database (HGMD), and others.
Consumer Resources
Disease-specific and/or symptom-specific consumer
health-oriented organizations and disease registries are included when
available; otherwise, broad-based umbrella resources are
listed. Resources are identified, evaluated, and selected
by staff.
Consumer health-oriented organizations included by
GeneTests:
- Provide information/services to individuals/families
with heritable diseases
- Supplement the information in GeneReviews
- Have a medical/scientific advisory board or other
mechanism for medical/scientific review
- Have a regional, national, or international base
- Do not intentionally include information about
specific clinical, educational, or research
facilities
- Are in English or provide an English version
- Are available at no cost
Registries included by
GeneTests:
- Have as their primary purpose:
- Improving the medical care of patients (e.g., by
collecting data on treatment and disease-related
outcomes) OR
- Increasing scientific/medical knowledge about the
disease (e.g., by identifying causative
genes/mutations, establishing inheritance
patterns)
- Have a medical/scientific advisory board or other
mechanism for medical scientific review
- Are not lists of clinical or research
facilities*
- May be affiliated with or sponsored by a
clinical/research facility
GeneTests does not assume responsibility for information
provided by the resources included.
* Genetics clinics can
be found in the GeneTests Clinic Directory and research laboratories can be found in the GeneTests
Laboratory
Directory.
Editor's Notes
Editor's Notes are used to clarify the content of
specific GeneReviews
sections.
Molecular Genetic Testing
Subsection
GeneReviews designates a
molecular genetic test as clinically available only if the
test is listed in the GeneTests Laboratory Directory by
either a US CLIA-licensed laboratory or a non-US clinical
laboratory. GeneTests does not verify laboratory-submitted
information or warrant any aspect of a laboratory's
licensure or performance. Clinicians must communicate
directly with the laboratories to verify information.
Differential Diagnosis Section
For current information on availability of genetic testing
for disorders included in this section, see GeneTests Laboratory
Directory.
Genetic Counseling Section
Genetic counseling is the process of providing individuals
and families with information on the nature, inheritance,
and implications of genetic disorders to help them make
informed medical and personal decisions. The following
section deals with genetic risk assessment and the use of
family history and genetic testing to clarify genetic
status for family members. This section is not meant to
address all personal, cultural, or ethical issues that
individuals may face or to substitute for consultation with
a genetics professional. To find a genetics or prenatal
diagnosis clinic, see the GeneTests Clinic
Directory.
Molecular Genetics Section
Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contian more current information.
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