Lab-Specific Test Indexes

Cytogenetics Laboratory

Cytogenetics Congenital Test List

15q Deletion or Duplication Syndromes
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22q Deletion or Duplication Syndromes
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Angelman Syndrome
Not recommended as first-tier test for diagnosis.
Test only appropriate to better define the extent of a deletion of 15q11.2 originally detected by 80766.
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Array Comparative Genomic Hybridization (aCGH)
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Bloom syndrome
Diagnostic testing for Bloom syndrome.
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Chromosome Studies for Congenital Disorders
Diagnostic testing for Bloom syndrome.
Diagnostic testing for Fanconi anemia C.
The test is appropriate to determine which X chromosome is being inactivated, in individuals with an X; autosome translocation
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Cri-du chat (5p)
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Culture Only (Additional test must be specified)
Culture for biochemical genetic testing only. The additional test(s) desired must be indicated on the requisition form that accompanies the specimen.
Culture for cytogenetic or molecular genetic testing only. The additional test(s) desired must be indicated on the requisition form that accompanies the specimen.
Culture for cytogenetic or molecular prenatal genetic testing only. The additional test(s) desired must be indicated on the requisition form that accompanies the specimen.
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DiGeorge Syndrome
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Fanconi Anemia C
Diagnostic testing for Fanconi anemia C.
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FISH (Fluorescence In Situ Hybridization) Studies for Congenital Disorders
Recommended as the first-tier test for evaluation of 15q duplication syndrome. Not recommended as first-tier test for diagnosis of Prader-Willi or Angelman syndrome.
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 or infertile XY males. 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
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Neurofibromatosis, type 1 (NF1)
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Prader-Willi Syndrome
Not recommended as first-tier test for diagnosis.
Test only appropriate to better define the extent of a deletion of 15q11.2 originally detected by 80766.
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Sex Chromosome Abnormalities
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 detect low levels of sex chromosome mosaicism when a karyotype of 45,X has been observed.
This test is only appropriate to characterize X-derived structurally abnormal chromosomes.
This test is appropriate to aid in the detection of the SRY gene in XX males and XY females or infertile XY males. Must be ordered in conjunction with conventional chromosome studies (8696).
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Shprintzen syndrome
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Smith-Magenis
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Steroid Sulfatase Deficiency (X-Linked Ichthyosis)
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Velocardiofacial Syndrome
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Williams syndrome
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Wolf-Hirschhorn
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X-Linked Ichthyosis
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Y Microdeletion Testing
This test must be ordered in conjunction with conventional chromosome studies (8696).
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