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Doctor insights on: Tests For Xyy Syndrome

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What are the tests for netherton's syndrome?

What are the tests for netherton's syndrome?

Netherton Syndrome : is diagnosed by molecular genetic testing for mutations of the SPINX gene on Chromosome 5q32. Other tests to determine the level of severity are found on www.genecards.org/cgi-bin/carddisp.pl?gene=SPINK5&search=spink5. Geneticists, dermatologists & other specialists provide diagnosis & management. See: www.firstskinfoundation.org/content.cfm/Ichthyosis/Netherton-Syndrome-Fact-Sheet/page_id/901 ...Read more

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What are the tests for reiter's syndrome?

What are the tests for reiter's syndrome?

Reiter's is syndrome: Reiter's syndrome is exactly that. Orinally decribed as arthritis following a bacterial dysentery, it now more commonly follows a chlamydial infection (venereal). Mosts patient or either hla-b27 positive or have a cross reactive hla type, such as b40 (60). There is a strong genetic component. The CRP should elevated, as would some gammaglobulins. ...Read more

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What are the tests for behcet's syndrome?

What are the tests for behcet's syndrome?

BEHCET's SYSDROME: Tests for behcets sysdrome is clinical. Diagnosis is suspected if there is recurrent oral aphthous ulcers, occular findings or genital ulcers and positive pathergy test. ...Read more

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What are the tests for sjogren's syndrome?

What are the tests for sjogren's syndrome?

A few tests: Generally, checking labs is helpful since patients with sjogren's almost always have one of two autoantibodies (ssa, ssb) present. Ssa, ssb also present in lupus but when only ssa or ssb is pos, sjogren's is a top consideration. Doctors can also test for sicca symptoms(decreased tear production with a paper strip put on lower eye lid.Most definitive test is minor salivary gland biopsy from lip. ...Read more

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What are the tests for cushing's syndrome?

What are the tests for cushing's syndrome?

CUSHING'S SYNDROME: Dx: 1. Urinary free cortisol - 4 x upper limit of normal. 2. Dexamethasone test- plasma cortosol level elevated.3. Acth level is elevated in pituitary cause. ...Read more

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What are the tests for asperger's syndrome?

What are the tests for asperger's syndrome?

Depends on age: Testing for these disorders involves a combination of questions to parents and teachers plus some direct psychological assessment of the child or adult. There are no established laboratory tests for making the diagnosis. Some of the questions are easy to misunderstand or overinterpret, so it it important to work with someone with experience in diagnosing autism. ...Read more

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What are the tests for rett syndrome?

What are the tests for rett syndrome?

Clinical: A girl who begins life seeming normal but develops autistic-like features can usually be diagnosed by a skilled clinician who can tell if it is rett's. Several genes are known, and can be tested for purposes of counseling / peace of mind, but some remain undiscovered. Good luck. ...Read more

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What are the tests for patau syndrome?

What are the tests for patau syndrome?

What Test: To a trained geneticist or an experienced neonatologist the clinical presentation of a child with trisomy 13 may not require any testing. However 100% confirmation of the clinical suspicion is usually provided by a karyotype test. ...Read more

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What are the tests for hellp syndrome?

What are the tests for hellp syndrome?

HELLP: Hemolysis, elevated liver enzymes, low platelets (hellp) syndrome is considered a variation of severe preeclampsia (a pregnancy complication). It is diagnosed (as the name suggests) by testing for signs of ruptures red blood cells (hemolysis), elevated liver enzymes, and low platelets. Your OB doc will be watching for this as part of your prenatal care. ...Read more

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What are the tests for werner syndrome?

What are the tests for werner syndrome?

WERNER SYNDROME: Clinical DX is by appearance which are premature aging after puberty with hair thinning and development of conditions of old age like cataract, diabetes and osteoporosis. ...Read more