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Cytogenetics Laboratory

Cytogenetic Testing for Congenital Disorders

1p36.3 Microdeletion Syndrome
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15q11.2 Duplication Syndrome
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22q11.2 Deletion or Duplication Syndromes
Other names for 22q11.2 deletion syndrome include DiGeorge Syndrome, Velocardiofacial Syndrome (VCFS), and Shprintzen Syndrome
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Bloom Syndrome
Diagnostic testing for Bloom Syndrome.
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Chromosomal Microarray
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Chromosome Studies for Congenital Disorders
Diagnostic testing for Bloom syndrome.
This test is useful for detecting increased spontaneous chromosomal breakage in patients with ataxia telangiectasia (AT) or Louis-Bar syndrome, and Nijmegen breakage syndrome (NBS) (chromosomal breakage syndromes).
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Cri-du chat Syndrome
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Culture Only (Additional test must be specified)
This test is appropriate when molecular or biochemical studies on cultured cells are wanted in addition to cytogenetic testing. The additional test(s) desired must be indicated on the requisition form that accompanies the specimen.
This test is appropriate when molecular or biochemical studies on cultured cells are wanted in addition to cytogenetic testing. The additional test(s) desired must be indicated on the requisition form that accompanies the specimen.
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FISH (Fluorescence In Situ Hybridization) Studies for Congenital Disorders
This test is only appropriate to better define the extent of a 15q11.2 deletion originally detected by #81153 - Prader-Willi/Angelman Syndrome, Molecular Analysis.
This test is only appropriate for detection of low levels of sex chromosome mosaicism when a karyotype of 45,X has been observed.
This test is appropriate to aid in the detection of the SRY gene in XX males and XY females.  Must be ordered in conjunction with conventional chromosome studies (8696).
This test is only appropriate as a supplement to conventional chromosome studies when an alternative tissue needs to be studied to detect sex chromosome aneuploidy.
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Kallmann Syndrome
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Miller-Dieker Syndrome
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Potocki-Lupski Syndrome
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Prader-Willi Syndrome
This test is only appropriate to better define the extent of a known 15q11.2 deletion originally detected by test #81153 (Prader-Willi/Angelman Syndrome, Molecular Analysis.
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Sex Chromosome Abnormalities
This test is only appropriate to detect low levels of sex chromosome mosaicism when a karyotype of 45,X has been observed.
This test is appropriate to aid in the detection of the SRY gene in XX males and XY females.  Must be ordered in conjunction with conventional chromosome studies (8696).
This test is only appropriate as a supplement to conventional chromosome studies when an alternative tissue needs to be studied to detect sex chromosome aneuploidy.
This test is only appropriate to characterize X-derived structurally abnormal chromosomes.
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Sex-Determining Region Y (SRY) Deletion or Rearrangement
This test is appropriate to aid in the detection of the SRY gene in XX males and XY females.  Must be ordered in conjunction with conventional chromosome studies (8696).
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Smith-Magenis Syndrome
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Steroid Sulfatase Deficiency (X-Linked Ichthyosis)
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Subtelomeric FISH Panel
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Williams Syndrome
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Wolf-Hirschhorn Syndrome
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XIST (Xq13.2 del)
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