- 88541 1p36.3 Microdeletion Syndrome, FISH
- 89365 15q11.2 Duplication, FISH
-
22q11.2 Deletion or Duplication Syndromes
- 81129 22q11.2 Deletion/Duplication, FISH
-
- 86208 15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH
- Test only appropriate to better define the extent of a 15q11.2 deletion originally detected by #81153 - Prader-Willi/Angelman Syndrome, Molecular Analysis.
-
Array Comparative Genomic Hybridization (aCGH)
- 88898 aCGH, Whole Genome, Constitutional
-
- 926 Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood
- Diagnostic testing for Bloom syndrome.
-
Chromosome Studies for Congenital Disorders
- 8426 Chromosome Analysis, Amniotic Fluid
- 8887 Chromosome Analysis, Autopsy, Products of Conception, or Stillbirth
- 80257 Chromosome Analysis, Chorionic Villus Sampling
- 8696 Chromosome Analysis, For Congenital Disorders, Blood
- 81332 Chromosome Analysis, Mitomycin C Stress for Fanconi Anemia, Blood
- Diagnostic testing for Fanconi anemia.
- 926 Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood
- Diagnostic testing for Bloom syndrome.
- 8425 Chromosome Analysis, Skin Biopsy
- 8912 Chromosomes, Body Fluid
- 89338 Chromosomes, Spontaneous Breakage
- 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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- 88536 Cri-du-chat Syndrome, 5p15.2 Deletion, FISH
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Culture Only (Additional test must be specified)
- 80334 Amniotic Fluid Culture for Genetic Testing
- 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.
- 8482 Fibroblast Culture
- Culture for biochemical genetic testing only. The additional test(s) desired must be indicated on the requisition form that accompanies the specimen.
- 80333 Fibroblast Culture for Genetic Testing
- Culture for cytogenetic or molecular genetic testing only. The additional test(s) desired must be indicated on the requisition form that accompanies the specimen.
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- 81129 22q11.2 Deletion/Duplication, FISH
-
- 81332 Chromosome Analysis, Mitomycin C Stress for Fanconi Anemia, Blood
- Diagnostic testing for Fanconi anemia.
-
FISH (Fluorescence In Situ Hybridization) Studies for Congenital Disorders
- 89365 15q11.2 Duplication, FISH
- 81129 22q11.2 Deletion/Duplication, FISH
- 86208 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.
- 88541 1p36.3 Microdeletion Syndrome, FISH
- 81081 Aneuploidy Detection, Products of Conception (POC), FISH
- 80602 Chromosome Anomalies, Unspecified Miscellaneous with Chromosome-Specific FISH Probes
- 88536 Cri-du-chat Syndrome, 5p15.2 Deletion, FISH
- 88540 Kallmann Syndrome, Xp22.3 Deletion, FISH
- 86374 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.
- 88533 Miller-Dieker Syndrome, 17p13.3 Deletion, FISH
- 83359 Neurofibromatosis Type 1, 17q11.2 Deletion, FISH
- 81409 Newborn Aneuploidy Detection, FISH
- 81424 Prenatal Aneuploidy Detection, FISH
- 88537 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).
- 88534 Smith-Magenis Syndrome, 17p11.2 Deletion/Duplication, FISH
- 88539 Steroid Sulfatase Deficiency, Xp22.3 Deletion, FISH
- 82583 Subtelomeric Region Anomalies, FISH
- 81163 Williams Syndrome, 7q11.23 Deletion, FISH
- 88535 Wolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH
- 8668 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.
- 88538 X-Inactivation (XIST), Xq13.2 Deletion, FISH
-
- 88540 Kallmann Syndrome, Xp22.3 Deletion, FISH
-
- 88533 Miller-Dieker Syndrome, 17p13.3 Deletion, FISH
-
Neurofibromatosis, type 1 (NF1)
- 83359 Neurofibromatosis Type 1, 17q11.2 Deletion, FISH
-
- 86208 15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH
- Test only appropriate to better define the extent of a 15q11.2 deletion originally detected by #81153 - Prader-Willi/Angelman Syndrome, Molecular Analysis.
-
Sex Chromosome Abnormalities
- 8696 Chromosome Analysis, For Congenital Disorders, Blood
- 86374 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.
- 88537 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).
- 8668 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.
- 88538 X-Inactivation (XIST), Xq13.2 Deletion, FISH
- This test is only appropriate to characterize X-derived structurally abnormal chromosomes.
-
- 81129 22q11.2 Deletion/Duplication, FISH
-
- 88534 Smith-Magenis Syndrome, 17p11.2 Deletion/Duplication, FISH
-
Steroid Sulfatase Deficiency (X-Linked Ichthyosis)
- 88539 Steroid Sulfatase Deficiency, Xp22.3 Deletion, FISH
-
Velocardiofacial Syndrome
- 81129 22q11.2 Deletion/Duplication, FISH
-
- 81163 Williams Syndrome, 7q11.23 Deletion, FISH
-
- 88535 Wolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH
-
- 88539 Steroid Sulfatase Deficiency, Xp22.3 Deletion, FISH
-
- 88537 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).
-
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