Question 1

who needs apc genetic testing?

Accepted Answer

Polyposis folks: Familial adenomatous polyposis (fap), gardner syndrome, turcot syndrome, and attenuated fap are caused by mutations of the apc gene. Teens and adults with these conditions develop dozens to thousands of polyps in their colons. Without surgery, their risk for colon cancer may be quite high. Apc testing can help to confirm the diagnosis and clarify your options - surgical and otherwise.

Question 2

can they do genetic testing for sexual orietation?

Accepted Answer

No: No genes are really known, and hopefully the day will never come when a parent would choose to end a pregnancy because they don't like the kid's hair color, eye color, sexual orientation (however much of this is genetic), height, musical talent or whatever.

Question 3

is genetic testing for adrenoleukodystrophy possible?

Accepted Answer

Yes: Because adrenoleukodystrophy is a genetic condition, there are tests for it. You can find some good information about the disorder, testing and centers that are experts in the disorder at the national organization for rare diseases (nord). Their web site is www.Rarediseases.Org. Disorders are listed alphabetically, along with hospitals/providers that have special expertise in the disorder.

Question 4

how much does genetic testing cost in general (amnio)?

Accepted Answer

Cost of amniocetesis: Cost varies from region to region, but average cost of amniocentesis is about 1500 dollars, if you have insurance and there is a valid indication, it is a covered.

Question 5

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

Accepted Answer

No: There is no known genetic predisposition to scleroderma.

Question 6

can holoprosencephaly be detected early by any genetic testing?

Accepted Answer

Yes: Holoprosencephaly involves abnormal forebrain structure and facial changes ranging from midline cleft lip to single eye (cyclops). Over 30 genes or chromosome regions can be altered to produce holopros, allowing chromosome/gene testing of affected children. Routine and certainly level II ultrasound should pick up holopros in the second trimester of pregnancy, allowing genetic testing by amnio.

Question 7

why should i have genetic testing done for reproductive purposes?

Accepted Answer

Genetic tetsting: If you are having fertility problems, genetic testing is an important tool. Some people carry recessive genes for chronic illnesses or degenerative diseases that can be fatal to the fetus. Performing genetic testing on both parents-to-be will be very helpful in deciding whether even to have a baby.

Question 8

what genetic testing can be done for sudden unexplained death besides lqts?

Accepted Answer

Molecular autopsy: Up to one third of sudden deaths in "structurally normal hearts" may harbor a genetic defect related to a channelopathy (e.g. Lqts, cpvt, brs, sqts). Cardiomyopathies  can result in sudden death even when the structural anomalies are minimal (e.g. Arvc or hcm related to mutations in the tnnt2 gene). Genetic testing is possible for these conditions but yield is &lt;25%. Lqts is the only "good" test.

Question 9

dx w/ borderline myopathy.  genetic testing next. will it progress or can it stay borderline?

Accepted Answer

Check With NINDS*: Can't answer without a definitive diagnosis.There's a whole laundry list of myopathies and illnesses with a myopathic component.According to the NIH:"The prognosis...varies.Some individuals have a normal life span &amp; little or no disability.For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal."*
 
* http://www.ninds.nih.gov/disorders/myopathy/myopathy

Question 10

is genetic testing for scn9a readily available through a geneticist? how to locate this biologist?

Accepted Answer

Severe ctl neutrop'?: Do you mean severe congenital neutropenia (scn)? I am not sure what 9a stands for. Thus far we have the following gene mutations known for scn, ela2 (sporadic*); gfi1, csf3r (ad); was (xl); hax1 (ar). Ad stands for autosomal domiant, xl, x linked, and ar autosomal recessive. Please clarify what you mean by 9a.

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Doctor answers about:

Genetic testing and molecular biomarkers

A member asked:

Who needs apc genetic testing?

A member asked:

Can they do genetic testing for sexual orietation?

A member asked:

Is genetic testing for adrenoleukodystrophy possible?

A member asked:

How much does genetic testing cost in general (amnio)?

A member asked:

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

A member asked:

Can holoprosencephaly be detected early by any genetic testing?

A member asked:

Why should i have genetic testing done for reproductive purposes?

A member asked:

What genetic testing can be done for sudden unexplained death besides lqts?

A member asked:

Dx w/ borderline myopathy. genetic testing next. will it progress or can it stay borderline?

A member asked:

Is genetic testing for scn9a readily available through a geneticist? how to locate this biologist?

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