Genetic Medicine procedures, page 1 of 2
20 procedures on this page, alphabetically from Cell-free DNA screening to RNA interference therapy. Each entry below describes the procedure in full.
On this page
Cell-free DNA screening
cell-free DNA screening: A laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample. Most often, clinicians are looking for genomic variants associated with hereditary disorders.
This is a diagnostic service. Results are reviewed by your care team, who will explain what they mean for your treatment.
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0001620 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing › prenatal genetic testing.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Your care team will give preparation instructions when you schedule. Call ahead if you have questions or need an interpreter.
Available at
Showing 5 of 11.
Providers offering this service
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Cellular therapy
Cell therapy is therapy in which cellular material is injected into a patient. Weyland-Yutani Health System offers cellular therapy through Genetic Medicine.
As a treatment, cellular therapy is planned with you. Talk with your care team about benefits, risks and alternatives.
Also known as
- cell therapy
- cellular therapies
Classification
Service type: therapeutic.
Ontology identifier: MAXO:0000016 (Medical Action Ontology).
Classification path: therapeutic procedure › biologic therapy.
Specialty: Genetic Medicine
Used to treat
Showing 5 of 8.
Preparing for your visit
Your care team will give preparation instructions when you schedule. Call ahead if you have questions or need an interpreter.
Available at
Providers offering this service
Related articles
Reference links
Chromosomal breakage analysis
A test to detect chromosomal breakage or aberrations (breaks, gaps, rearrangements, radials, exchanges, endoreduplications) in peripheral blood cells after culture with a T-cell mitogen and a DNA clastogenic (cross-linking) agent, such as diepoxybutane (DEB) or mitomycin C (MMC). Weyland-Yutani Health System offers chromosomal breakage analysis through Genetic Medicine.
As a diagnostic service, chromosomal breakage analysis helps your clinician understand your condition. Ask how and when you will receive your results.
Also known as
- chromosomal breakage testing
- Chromosome Breakage Analysis (DEB/MMC)
- DEB/MMC testing
- induced chormosomal breakage testing
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000746 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing › molecular genetic testing › cytogenetic analysis.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Before your visit, confirm your appointment, bring your insurance card and tell staff about any allergies or medications.
Available at
Showing 5 of 7.
Providers offering this service
Reference links
Chromosomal microarray testing
A genetic test that compares DNA sample to normal control to look for genetic alterations. Our Genetic Medicine team performs chromosomal microarray testing and explains each step beforehand.
This is a diagnostic service. Results are reviewed by your care team, who will explain what they mean for your treatment.
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0001612 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before chromosomal microarray testing.
Available at
Showing 5 of 10.
Providers offering this service
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Clinical biochemical geneticist evaluation
clinical biochemical geneticist evaluation: An assessment with a specialist who directs and interprets a wide range of specialized, laboratory biochemical genetic analyses relevant to the diagnosis and management of inherited metabolic disorders. The specialist acts as a consultant regarding laboratory diagnosis on a broad range of inborn errors of metabolism.
As a diagnostic service, clinical biochemical geneticist evaluation helps your clinician understand your condition. Ask how and when you will receive your results.
Also known as
- clinical biochemical geneticist consultation
- consultation with clinical biochemical geneticist
- referral to a clinical biochemical geneticist
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000697 (Medical Action Ontology).
Classification path: diagnostic procedure › medical professional evaluation › medical specialist evaluation.
Specialty: Genetic Medicine
Used to diagnose
Showing 5 of 8.
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before clinical biochemical geneticist evaluation.
Available at
Showing 5 of 9.
Reference links
Clinical DNA detection testing
clinical DNA detection testing: A technique that detects a particular DNA sequence in order to identify a pathogen (organism or virus) in blood, tissue, urine, or other bodily fluids.
This is a diagnostic service. Results are reviewed by your care team, who will explain what they mean for your treatment.
Also known as
- DNA detection examination
- DNA detection procedure
- DNA detection testing
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000591 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › clinical nucleic acid testing for pathogens.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before clinical DNA detection testing.
Available at
Providers offering this service
Showing 5 of 6.
Reference links
Clinical genetics and genomics specialist evaluation
An assessment with a specialist who provides comprehensive diagnostic, management, therapeutic, and counseling services for individuals and families at risk for clinical disorders with a genetic basis. The specialist is trained to evaluate individuals of all ages for hereditary conditions. Weyland-Yutani Health System offers clinical genetics and genomics specialist evaluation through Genetic Medicine.
As a diagnostic service, clinical genetics and genomics specialist evaluation helps your clinician understand your condition. Ask how and when you will receive your results.
Also known as
- clinical geneticist consultation
- clinical geneticist evaluation
- clinical genetics and genomics specialist consultation
- consultation with clinical geneticist
- consultation with clinical genetics and genomics specialist
- referral to a clinical geneticist
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000698 (Medical Action Ontology).
Classification path: diagnostic procedure › medical professional evaluation › medical specialist evaluation.
Specialty: Genetic Medicine
Used to diagnose
Preparing for your visit
Before your visit, confirm your appointment, bring your insurance card and tell staff about any allergies or medications.
Available at
Showing 5 of 15.
Providers offering this service
Reference links
Clinical laboratory geneticist evaluation
About this service. An assessment or consultation by a diplomate certified in Laboratory Genetics and Genomics who directs and interprets both clinical cytogenetic and molecular genetic analyses relevant to the diagnosis and management of human genetic disease. This specialist acts as a consultant in laboratory diagnoses for a broad range of molecular and chromosomal-based disorders, including both inherited and acquired conditions.
This is a diagnostic service. Results are reviewed by your care team, who will explain what they mean for your treatment.
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000699 (Medical Action Ontology).
Classification path: diagnostic procedure › medical professional evaluation › medical specialist evaluation.
Specialty: Genetic Medicine
Used to diagnose
Preparing for your visit
Before your visit, confirm your appointment, bring your insurance card and tell staff about any allergies or medications.
Available at
Showing 5 of 7.
Providers offering this service
Reference links
Clinical whole genome sequencing
clinical whole genome sequencing: A procedure that can determine the DNA sequence for coding and non-coding regions in an individual.
As a diagnostic service, clinical whole genome sequencing helps your clinician understand your condition. Ask how and when you will receive your results.
Also known as
- genome sequencing
- WGS
- whole genome sequncing
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0009006 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing › molecular genetic testing.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Your care team will give preparation instructions when you schedule. Call ahead if you have questions or need an interpreter.
Available at
Showing 5 of 13.
Providers offering this service
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Reference links
Clinical whole-exome sequencing
A procedure that can determine the DNA sequence for all of the exons (protein coding region) in an individual. This page describes clinical whole-exome sequencing and where it is available across Weyland-Yutani Health System.
This is a diagnostic service. Results are reviewed by your care team, who will explain what they mean for your treatment.
Also known as
- exome sequencing
- WES
- whole exome sequencing
- WXS
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0009004 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing › molecular genetic testing.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Showing 5 of 6.
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before clinical whole-exome sequencing.
Available at
Showing 5 of 6.
Providers offering this service
Reference links
Cytogenetic analysis
Techniques for analysis of chromosomal and subchromosomal properties and structures, such as those to diagnose, classify, screen for, or manage genetic diseases and abnormalities. This page describes cytogenetic analysis and where it is available across Weyland-Yutani Health System.
As a diagnostic service, cytogenetic analysis helps your clinician understand your condition. Ask how and when you will receive your results.
Also known as
- chromosome analysis
- cytogenetic study
- cytogenetic testing
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000745 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing › molecular genetic testing.
Specialty: Genetic Medicine
Broader services
More specific services
Used to diagnose
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before cytogenetic analysis.
Available at
Providers offering this service
Reference links
Gene editing therapy
A molecular genetic produce to alter a target gene sequence with the intention of repairing or altering the activity of a gene product that is related to a disease. This page describes gene editing therapy and where it is available across Weyland-Yutani Health System.
This is a therapeutic service. Your clinician will discuss goals, expected recovery and any follow-up care.
Classification
Service type: therapeutic.
Ontology identifier: MAXO:0001484 (Medical Action Ontology).
Classification path: therapeutic procedure › biologic therapy › gene therapy.
Specialty: Genetic Medicine
Broader services
Used to treat
Preparing for your visit
Before your visit, confirm your appointment, bring your insurance card and tell staff about any allergies or medications.
Available at
Showing 5 of 9.
Providers offering this service
Reference links
Gene therapy
Gene therapy involves the use of nucleic acids (DNA or RNA) for the treatment, cure or prevention of human disorders. Our Genetic Medicine team performs gene therapy and explains each step beforehand.
This is a therapeutic service. Your clinician will discuss goals, expected recovery and any follow-up care.
Also known as
- DNA therapy
- gene therapies
- gene transfer procedure
- genetic therapy
Classification
Service type: therapeutic.
Ontology identifier: MAXO:0001001 (Medical Action Ontology).
Classification path: therapeutic procedure › biologic therapy.
Specialty: Genetic Medicine
More specific services
Used to treat
Preparing for your visit
Before your visit, confirm your appointment, bring your insurance card and tell staff about any allergies or medications.
Available at
Showing 5 of 15.
Providers offering this service
Related articles
Reference links
Genetic carrier screening
A genetic test to whether a healthy person harbors a recessive mutation in one of their copies of a gene or genes. This page describes genetic carrier screening and where it is available across Weyland-Yutani Health System.
This is a diagnostic service. Results are reviewed by your care team, who will explain what they mean for your treatment.
Also known as
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000530 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Before your visit, confirm your appointment, bring your insurance card and tell staff about any allergies or medications.
Available at
Showing 5 of 7.
Providers offering this service
Related articles
Reference links
Genetic testing
About this service. The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder.
As a diagnostic service, genetic testing helps your clinician understand your condition. Ask how and when you will receive your results.
Also known as
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000127 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure.
Specialty: Genetic Medicine
Broader services
More specific services
Used to diagnose
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before genetic testing.
Available at
Showing 5 of 11.
Providers offering this service
Reference links
In vitro DNA repair study
in vitro DNA repair study: A test that measures DNA damage/breakage in patient cells. DNA damage repair plays an important role in cancer initiation and progression, and in therapeutic resistance.
As a diagnostic service, in vitro DNA repair study helps your clinician understand your condition. Ask how and when you will receive your results.
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0035025 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before in vitro DNA repair study.
Available at
Showing 5 of 8.
Providers offering this service
Reference links
Karyotyping
About this service. Examining chromosomes to identify abnormalities.
This is a diagnostic service. Results are reviewed by your care team, who will explain what they mean for your treatment.
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0001611 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Your care team will give preparation instructions when you schedule. Call ahead if you have questions or need an interpreter.
Available at
Showing 5 of 14.
Providers offering this service
Reference links
Molecular genetic testing
A diverse set of techniques used to identify the molecular basis of genetic disease. Examples of molecular genetic tests include: genotyping to detect specific pathogenic variants; sequencing of a gene to detect pathogenic variants; amplification or hybridization methods (e.g., qPCR, array CGH, MLPA) to detect copy number variants involving one or more genes; methylation-specific techniques to detect epigenetic changes that influence gene expression; and exome and genome sequencing. Weyland-Yutani Health System offers molecular genetic testing through Genetic Medicine.
As a diagnostic service, molecular genetic testing helps your clinician understand your condition. Ask how and when you will receive your results.
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0000533 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing.
Specialty: Genetic Medicine
Broader services
More specific services
Used to diagnose
Preparing for your visit
Your care team will give preparation instructions when you schedule. Call ahead if you have questions or need an interpreter.
Available at
Showing 5 of 9.
Providers offering this service
Reference links
Preimplantation genetic testing
preimplantation genetic testing: Genetic testing of one or more cells removed from early embryos conceived by in vitro fertilization and transferring to the mother's uterus only those embryos determined not to have the pathogenic variant(s)/chromosome anomaly(ies) of concern.
As a diagnostic service, preimplantation genetic testing helps your clinician understand your condition. Ask how and when you will receive your results.
Also known as
- PGD
- PGS
- PGT
- preimplantation genetic screening
- preimplation genetic diagnosis
Classification
Service type: diagnostic.
Ontology identifier: MAXO:0009003 (Medical Action Ontology).
Classification path: diagnostic procedure › clinical laboratory procedure › genetic testing › prenatal genetic testing.
Specialty: Genetic Medicine
Broader services
Used to diagnose
Preparing for your visit
Your care team will give preparation instructions when you schedule. Call ahead if you have questions or need an interpreter.
Available at
Showing 5 of 15.
Providers offering this service
Reference links
RNA interference therapy
Specific RNA molecules are used to induce sequence-specific inhibition of target gene expression or translation for the purpose of therapy. Weyland-Yutani Health System offers RNA interference therapy through Genetic Medicine.
This is a therapeutic service. Your clinician will discuss goals, expected recovery and any follow-up care.
Also known as
- RNA interference-based therapy
- RNAi therapy
Classification
Service type: therapeutic.
Ontology identifier: MAXO:0001592 (Medical Action Ontology).
Classification path: therapeutic procedure › biologic therapy › gene therapy.
Specialty: Genetic Medicine
Broader services
Used to treat
Preparing for your visit
Ask your clinician whether you need to fast, adjust medications or arrange a ride home before RNA interference therapy.
Available at
Showing 5 of 7.
Providers offering this service
Reference links