Question 1

i want to know what's the genetics for phenylketonuria (pku)?

Accepted Answer

Autosomal recessive: The gene defect is carried by both asymptomatic parents who have one normal gene to make up for their defective one. When 2 defective genes end up in their baby the cells do not have the code needed to use phenylalanine. Toxic products build up in babies blood unless phenylalanine is removed from their diet.

Question 2

i want to know what's the genetic disorder called pku?

Accepted Answer

Phenylalanine (Phe): Your genes pass the code to your cells for making  enzymes it needs to utilize dietary substances. Food must be broken down to usable parts ; recycled in each cell to become the building blocks of cell walls, muscle, etc.In pku a kid inherits a bad code from both asymptomatic parents ;  doesn't make the phe enzyme. A buildup of phe becomes toxic, can cause brain damage and phe spills into the urine.

Question 3

what are the pros and cons of genetic testing?

Accepted Answer

Molecular genetic: testing &amp; a  Fragile X Syndrome probe are recommended for people of any age with developmental delays, Intellectual Disability  &amp;/or Autistic Spectrum Disorder. People at risk of transmitting mutant genes because of ethnicity, family history or consanguity need pre-pregnancy testing. Chromosomal array on amniotic fluid is offered to women with high risk of fetal Down Syndrome &amp; other aneuploidies.

Question 4

is genetic testing necessary for cmt diagnosis?

Accepted Answer

No: Diagnosis can be made by other means, though genetic testing will provide confirmation and pin point the defect. See this site for more info.
http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001741/.

Question 5

please tell me what implications are there for genetic testing?

Accepted Answer

Autonomy: Today, most (not all) people and most governments believe that if a person will suffer from serious disease that is determined by the genes they carry, they need to know so that they can make their own decisions -- and that mothers should make the decisions for their unborn children up to and including abortion. This is the principal "implication" in our often-cruel world. Best wishes.

Question 6

is there a genetic testing for sclerodermia? if so, which one?

Accepted Answer

No: There is no known genetic predisposition to scleroderma.

Question 7

what is the best clinic for genetic testing?

Accepted Answer

One with a board-: Certified geneticist who will examine the patient & determine what genetic tests need to be ordered. Referral by a primary care physician is needed, as well as all medical, educational & therapeutic records + a 3-generation family history of medical & psychiatric disorders. For information & support, contact http://www.Geneticalliance.Org.

Question 8

how to know if you have huntington's disease? genetic testing?

Accepted Answer

Genetic Counselor: See a genetic counselor to arrange testing. University hospitals have clinical or medical genetics divisions. Otherwise, an OB doctor, a fertility clinic, or a maternal fetal medicine or high-risk OB clinic can refer you. If you are going to have kids preimplantation genetic diagnosis (pgd) to prevent your child from having huntington's is possible, without disclosing if you have the disease.

Question 9

what genetic testing is currently available for wilson disease?

Accepted Answer

ATP7B gene: Initial screens include levels of ceruloplasmin and copper in the blood, but a liver biopsy is usually required. Once that is "positive, " then a mutation analysis of the atp7b gene, along with other genes linked to copper accumulation in the liver, can be performed.

Question 10

why do some people consider prenatal genetic testing to be unethical?

Accepted Answer

Religion: Some religions forbid abortion, and others even forbid the pre-implantation testing of at-risk embryos.  Others (i'm an episcopalian) support whatever you must do to have a healthy family.  Thankfully (i think) most of the world enjoys enough freedom of religion and from religion that no one need be forced to bear a child who will die young and miserably of a genetic disease.

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Doctor answers about:

Pku genetic testing

A member asked:

I want to know what's the genetics for phenylketonuria (pku)?

A member asked:

I want to know what's the genetic disorder called pku?

A member asked:

What are the pros and cons of genetic testing?

A member asked:

Is genetic testing necessary for cmt diagnosis?

A member asked:

Please tell me what implications are there for genetic testing?

A member asked:

Is there a genetic testing for sclerodermia? if so, which one?

A member asked:

What is the best clinic for genetic testing?

A member asked:

How to know if you have huntington's disease? genetic testing?

A member asked:

What genetic testing is currently available for wilson disease?

A member asked:

Why do some people consider prenatal genetic testing to be unethical?

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