Cytogenetics Laboratory

1p36.3 Microdeletion Syndrome 15q11.2 Duplication Syndrome 22q11.2 Deletion or Duplication Syndromes (DiGeorge/Velocardiofacial Syndromes) Bloom Syndrome Chromosomal Microarray, Congenital, Blood Chromosome Studies for Congenital Disorders Cri-du-chat Syndrome (5p15.2 del)

Culture Only FISH (Fluorescence In Situ Hybridization) Studies for Congenital Disorders Kallmann Syndrome (Xp22.3 del) Miller-Dieker Syndrome (17p13.3 del) Potocki-Lupski Syndrome (17p11.2 dup) Prader-Willi Syndrome Sex Chromosome Abnormalities Sex-Determining Region Y (SRY) Deletion/ Rearrangement

Smith-Magenis Syndrome (17p11.2 del) Steroid Sulfatase Deficiency (X-Linked Ichthyosis) Subtelomeric FISH Panel Williams Syndrome (7q11.23 del) Wolf-Hirschhorn Syndrome (4p16.3 del) XIST (Xq13.2 del)

1p36.3 Microdeletion Syndrome, FISH

15q11.2 Duplication, FISH

 

22q11.2 Deletion/Duplication, FISH

Other names for 22q11.2 deletion syndrome include DiGeorge Syndrome, Velocardiofacial Syndrome (VCFS), and Shprintzen Syndrome

 

Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood

Diagnostic testing for Bloom Syndrome.

 

Chromosomal Microarray, Congenital, Blood

 

Chromosome Analysis, Amniotic Fluid

Chromosome Analysis, Autopsy, Products of Conception, or Stillbirth

Chromosome Analysis, Chorionic Villus Sampling

Chromosome Analysis, for Congenital Disorders, Blood

Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood

Diagnostic testing for Bloom syndrome.

Chromosome Analysis, Skin Biopsy

Chromosome Analysis, Spontaneous Breakage Analysis, Blood

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).

 

Cri-du-chat Syndrome, 5p15.2 Deletion, FISH

 

Amniotic Fluid Culture for Genetic Testing

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.

Fibroblast Culture for Genetic Testing

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.

 

1p36.3 Microdeletion Syndrome, FISH

15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH

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.

15q11.2 Duplication, FISH

22q11.2 Deletion/Duplication, FISH

Aneuploidy Detection, Products of Conception (POC), FISH

Chromosome Anomalies, Unspecified Miscellaneous with Chromosome-Specific FISH Probes

Cri-du-chat Syndrome, 5p15.2 Deletion, FISH

Kallmann Syndrome, Xp22.3 Deletion, FISH

Known 45,X, Mosaicism Reflex Analysis, FISH

This test is only appropriate for detection of low levels of sex chromosome mosaicism when a karyotype of 45,X has been observed.

Miller-Dieker Syndrome, 17p13.3 Deletion, FISH

Newborn Aneuploidy Detection, FISH

Prenatal Aneuploidy Detection, FISH

Sex-Determining Region Y, Yp11.3 Deletion, FISH

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).

Smith-Magenis/Potocki-Lupski Syndromes, 17p11.2 Deletion/Duplication, FISH

Steroid Sulfatase Deficiency, Xp22.3 Deletion, FISH

Subtelomeric Region Anomalies, FISH

Williams Syndrome, 7q11.23 Deletion, FISH

Wolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH

X and Y Aneuploidy Detection, Buccal Smear, FISH

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.

X-inactivation (XIST), Xq13.2 Deletion, FISH

 

Kallmann Syndrome, Xp22.3 Deletion, FISH

 

Miller-Dieker Syndrome, 17p13.3 Deletion, FISH

 

Smith-Magenis/Potocki-Lupski Syndromes, 17p11.2 Deletion/Duplication, FISH

15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH

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.

 

Chromosome Analysis, For Congenital Disorders, Blood

Known 45,X, Mosaicism Reflex Analysis, FISH

This test is only appropriate to detect low levels of sex chromosome mosaicism when a karyotype of 45,X has been observed.

Sex-Determining Region Y, Yp11.3 Deletion, FISH

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).

X and Y Aneuploidy Detection, Buccal Smear FISH

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.

X-Inactivation (XIST), Xq13.2 Deletion, FISH

This test is only appropriate to characterize X-derived structurally abnormal chromosomes.

 

Sex-Determining Region Y, Yp11.3 Deletion, FISH

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).

 

Smith-Magenis Syndrome, 17p11.2 Deletion/Duplication, FISH

 

Steroid Sulfatase Deficiency, Xp22.3 Deletion, FISH

 

Subtelomeric Region Anomalies, FISH

 

Williams Syndrome, 7q11.23 Deletion, FISH

 

Wolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH

 

X-inactivation (XIST), Xq13.2 Deletion, FISH