Down syndrome laboratory findings

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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:
  • 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
  • Cytogenetic studies
    • Cytogenetic studies are performed for the confirmation of down syndrome
    • Karyotyping must be performed to determine the risk of recurrence
  • 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