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Specialties
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Clinical Genetics
Overview
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Conditions Treated
Symptoms Commonly Seen
Treatments Commonly Offered
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Related questions

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A 27-year old female asked:

During my preconception visit my dr. was really pushing genetic screening for before we start conceiving. We have no family history of genetic disorders and she said nothing stands out (other than cystic fibrosis since we are both Caucasian). ?

2 doctor answers • 6 doctors weighed in

A 34-year old asked:

Can genetic testing prevent birth defects in pregnancy?

3 doctor answers • 6 doctors weighed in

A 21-year old asked:

How can I know if I have iron overload/hemochromatosis? What tests should be performed? I hear that there is a DNA genetic test kit for hemochromatosis, is that true?

3 doctor answers • 8 doctors weighed in

A 25-year old male asked:

Have you ever heard of the genetic disorder known as nerofibromatosis(nf) because I have nf2 and I am just looking to see if it us well known?

4 doctor answers • 10 doctors weighed in

A 27-year old female asked:

Does having the mthfr gene mutation put me at risk for life threatning illness more than the average person? Is there anything i can do 2 help

3 doctor answers • 4 doctors weighed in

A 21-year old asked:

What genetic testing is currently available for wilson disease?

3 doctor answers • 5 doctors weighed in

A 34-year old female asked:

Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens. I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation. There is a lot of conflicting inform

3 doctor answers • 8 doctors weighed in

A 37-year old female asked:

Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?

3 doctor answers • 4 doctors weighed in

A 37-year old female asked:

I am pregnant and have a mthfr gene mutation and i recently read that folic acid is not good for me or the baby and I should take folate instead?

3 doctor answers • 5 doctors weighed in

A 38-year old asked:

What do brca1 and brca2 stand for?

3 doctor answers • 9 doctors weighed in

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Conditions Treated

Congenital abnormalities
Bleeding disorders
Uterine abnormalities
Cartilage disorders
Birth defects
Hemophilia
Multiple sclerosis (MS)
Cooley's anemia
Thalassemia
Iron overload (hemochromatosis)
Galactosemia
Polycystic kidney disease
Hemolytic disease of newborn
Von recklinghausen's disease
Fabry disease
Charcot marie tooth
Chromosomal abnormalities
Mucopolysaccharidoses
Usher syndrome
Mucolipidoses
PXE
Inherited metabolic disorders
Hereditary colon cancer
Christmas disease
Leukodystrophy
Tuberous sclerosis
Maple syrup urine disease
Inherited emphysema
Factor VIII deficiency
Canavan disease
Muscular dystrophy
Severe combined immunodeficiency
Double outlet right ventricle
Hereditary breast cancer
Niemann pick disease
Mitochondrial disorder
Chronic myelogenous leukemia
Klinefelter's syndrome
Hereditary ovarian cancer
Marfan syndrome
Chronic granulomatous disease
Esophageal atresia
Edwards syndrome
Von hippel lindau disease
Ehler-danlos syndrome
Inherited metabolic disorders in fetus
Werner syndrome
Wiskott aldrich
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Symptoms Commonly Seen

Photosensitivity rash
Scalp defect

Treatments Commonly Offered

Salt water rinse
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