Down syndrome laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
*The following lab tests are done for the patients of Down syndrome to rule out conditions associated with down syndrome:<ref>Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief literature review. Arch Neurol. 2008. 65:412-415.</ref><ref name="PapavassiliouYork2009">{{cite journal|last1=Papavassiliou|first1=Paulie|last2=York|first2=Timothy P.|last3=Gursoy|first3=Nurcan|last4=Hill|first4=Gloria|last5=Nicely|first5=Lauren Vanner|last6=Sundaram|first6=Usha|last7=McClain|first7=Allison|last8=Aggen|first8=Steven H.|last9=Eaves|first9=Lindon|last10=Riley|first10=Brien|last11=Jackson-Cook|first11=Colleen|title=The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues|journal=American Journal of Medical Genetics Part A|volume=149A|issue=4|year=2009|pages=573–583|issn=15524825|doi=10.1002/ajmg.a.32729}}</ref> | |||
* | **CBC with differentials to rule out Leukemia | ||
**To rule out hypothyroid, the following tests are performed at birth, 6 months, 1 year and then annually: | |||
***TSH | |||
* | ***T4 | ||
* | **Measurement of Immunoglobulin G | ||
** | ***Subsequent low level of IgG subclass 4 are correlated with bacterial infections | ||
** | **The Mosaic trisomy 21 that includes: | ||
** | ***Lymphocyte preparations | ||
***FISH | |||
* | ***Buccal mucosa cellular preparations | ||
***Scoring frequency of trisomic cells | |||
**Interphase fluorescence in situ hybridization (FISH) | |||
***Interphase fluorescence in situ hybridization is used for early and rapid detection of trisomy 21 | |||
***The FISH test is beneficial in the diagnosis of Down syndrome in prenatal and neonatal period | |||
***The FISH test needs to be confirmed by a complete karyotype analysis as it does not provide information about the trisomy 21 that if it is secondary to a translocation | |||
==References== | ==References== | ||
Revision as of 22:21, 20 March 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal for patients with [disease name].
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
OR
There are no diagnostic laboratory findings associated with [disease name].
Laboratory Findings
- The following lab tests are done for the patients of Down syndrome to rule out conditions associated with down syndrome:[1][2]
- CBC with differentials to rule out Leukemia
- To rule out hypothyroid, the following tests are performed at birth, 6 months, 1 year and then annually:
- TSH
- T4
- Measurement of Immunoglobulin G
- Subsequent low level of IgG subclass 4 are correlated with bacterial infections
- The Mosaic trisomy 21 that includes:
- Lymphocyte preparations
- FISH
- Buccal mucosa cellular preparations
- Scoring frequency of trisomic cells
- Interphase fluorescence in situ hybridization (FISH)
- Interphase fluorescence in situ hybridization is used for early and rapid detection of trisomy 21
- The FISH test is beneficial in the diagnosis of Down syndrome in prenatal and neonatal period
- The FISH test needs to be confirmed by a complete karyotype analysis as it does not provide information about the trisomy 21 that if it is secondary to a translocation
References
- ↑ Ringman JM, Rao N, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia. A case report and brief literature review. Arch Neurol. 2008. 65:412-415.
- ↑ Papavassiliou, Paulie; York, Timothy P.; Gursoy, Nurcan; Hill, Gloria; Nicely, Lauren Vanner; Sundaram, Usha; McClain, Allison; Aggen, Steven H.; Eaves, Lindon; Riley, Brien; Jackson-Cook, Colleen (2009). "The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues". American Journal of Medical Genetics Part A. 149A (4): 573–583. doi:10.1002/ajmg.a.32729. ISSN 1552-4825.