What are Genetic Disorders

Genetic disorders are physical defects or illnesses that are caused by problems in your
body's genetic code. Everybody is made up of 46 chromosomes, and these
chromosomes carry your DNA. DNA is responsible for dictating how you will look, act,
and develop. When a baby is conceived, he receives 23 chromosomes from his mother
and 23 chromosomes from his father. These chromosomes come together to complete
an entire genetic code. Sometimes, however, defects can occur in some of the
chromosomes or individual genes. As a result, fetal development can change, and your
baby can be born with a genetic disorder.

What are the types of genetic disease?

1. chromosomal abnormalities
2. single gene defects
3. multifactorial problems
4. teratogenic problems

Parents who have a genetic disease

Several factors increase the likelihood that a person will inherit an alteration in a gene. If
you are concerned about your risk, you should talk to your health care provider or a
genetic counselor. The following factors may increase the chance of getting or passing
on a genetic disease:

Parents who have a genetic disease

A family history of a genetic disease
Parents who are closely related or part of a distinct ethnic or geographic community
Parents who do not show disease symptoms, but "carry" a disease gene in their genetic
makeup (this can be discovered through genetic testing).

Common tests for determining genetic abnormalities

Newborn screening
Newborn Screening is a simple procedure to find out if a baby has a congenital
metabolic disorder that may lead to mental disorder that may lead to mental
retardation and even death if left untreated

{Newborn screening program in the Philippines currently includes screening of six

disorders: congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH),
phenylketonuria (PKU), glucose-6- phosphate dehydrogenase (G6PD) deficiency,
galactosemia (GAL) and maple syrup urine disease (MSUD)}

Diagnostic testing
Diagnostic testing is used to identify or rule out a specific genetic or chromosomal
condition. In many cases, genetic testing is used to confirm a diagnosis when a particular
condition is suspected based on physical signs and symptoms. Diagnostic testing can be
performed before birth or at any time during a person's life, but is not available for all
genes or all genetic conditions. The results of a diagnostic test can influence a person's
choices about health care and the management of the disorder.

{Diagnostic testing. If you have symptoms of a disease that may be caused by genetic
changes, sometimes called mutated genes, genetic testing can reveal if you have the
suspected disorder. For example, genetic testing may be used to confirm a diagnosis of
cystic fibrosis or Huntington's disease.}

Carrier testing
Carrier testing is used to identify people who carry one copy of a gene mutation that,
when present in two copies, causes a genetic disorder. This type of testing is offered to
individuals who have a family history of a genetic disorder and to people in certain
ethnic groups with an increased risk of specific genetic conditions. If both parents are
tested, the test can provide information about a couple's risk of having a child with a
genetic condition.

{Carrier testing. If you have a family history of a genetic disorder — such as sickle cell
anemia or cystic fibrosis — or you're in an ethnic group that has a high risk of a specific
genetic disorder, you may choose to have genetic testing before having children. An
expanded carrier screening test can detect genes associated with a wide variety of
genetic diseases and mutations and can identify if you and your partner are carriers for
the same conditions.}

Prenatal testing
Prenatal testing is used to detect changes in a fetus's genes or chromosomes before
birth. This type of testing is offered during pregnancy if there is an increased risk that
the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing
can lessen a couple's uncertainty or help them make decisions about a pregnancy. It
cannot identify all possible inherited disorders and birth defects, however.

{Prenatal testing. If you're pregnant, tests can detect some types of abnormalities in
your baby's genes. Down syndrome and trisomy 18 syndrome are two genetic disorders
that are often screened for as part of prenatal genetic testing. Traditionally this is done
looking at markers in blood or by invasive testing such as amniocentesis. Newer testing
called cell-free DNA testing looks at a baby's DNA via a blood test done on the mother.}

Preimplantation testing
Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a
specialized technique that can reduce the risk of having a child with a particular genetic
or chromosomal disorder. It is used to detect genetic changes in embryos that were
created using assisted reproductive techniques such as in-vitro fertilization. In-vitro
fertilization involves removing egg cells from a woman’s ovaries and fertilizing them
with sperm cells outside the body. To perform preimplantation testing, a small number
of cells are taken from these embryos and tested for certain genetic changes. Only
embryos without these changes are implanted in the uterus to initiate a pregnancy.

{Preimplantation testing. Also called preimplantation genetic diagnosis, this test may be

used when you attempt to conceive a child through in vitro fertilization. The embryos
are screened for genetic abnormalities. Embryos without abnormalities are implanted in
the uterus in hopes of achieving pregnancy}

Predictive and presymptomatic testing

Predictive and presymptomatic types of testing are used to detect gene mutations
associated with disorders that appear after birth, often later in life. These tests can be
helpful to people who have a family member with a genetic disorder, but who have no
features of the disorder themselves at the time of testing. Predictive testing can identify
mutations that increase a person's risk of developing disorders with a genetic basis, such
as certain types of cancer. 

{Presymptomatic and predictive testing. If you have a family history of a genetic

condition, getting genetic testing before you have symptoms may show if you're at risk
of developing that condition. For example, this type of test may be useful for identifying
your risk of certain types of colorectal cancer.}

Forensic testing
Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike
the tests described above, forensic testing is not used to detect gene mutations
associated with disease. This type of testing can identify crime or catastrophe victims,
rule out or implicate a crime suspect, or establish biological relationships between
people (for example, paternity).