15q Deletion or Duplication Syndromes
- 80766 15q11.2 Deletion/Duplication,
FISH
22q Deletion or Duplication Syndromes
- 81129 22q11.2
Deletion/Duplication, FISH
- 80766 15q11.2 Deletion/Duplication, Prader-Willi and Angelman Syndromes, FISH
- Not recommended as first-tier
test for diagnosis.
- 86208 15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH
- Test only appropriate to better define the extent
of a deletion of 15q11.2 originally detected by 80766.
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
- 80257 Chromosome
Analysis, Chorionic Villus Sampling
- 8426 Chromosome
Analysis, Amniotic Fluid
- 8887 Chromosome
Analysis, Autopsy, Products of Conception, or Stillbirth
- 8696 Chromosome
Analysis, For Congenital Disorders, Blood
- 8425 Chromosome
Analysis, Skin Biopsy
- 8912 Chromosomes,
Body Fluid
- 926
Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood
- Diagnostic testing for Bloom syndrome.
- 81332 Chromosome
Analysis, Mitomycin C Stress for Fanconi Anemia, Blood
- Diagnostic testing for Fanconi anemia C.
- 89032 Chromosome Analysis, Replication Banding
- The test is appropriate to determine which X chromosome is being inactivated, in individuals with an X; autosome translocation
- 88536 Cri-du-chat Syndrome, 5p15.2 Deletion, FISH
Culture Only (Additional test must
be specified)
- 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.
- 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.
- 81129 22q11.2
Deletion/Duplication, FISH
- 81332 Chromosome
Analysis, Mitomycin C Stress for Fanconi Anemia, Blood
- Diagnostic testing for Fanconi anemia C.
FISH (Fluorescence In Situ Hybridization)
Studies for Congenital Disorders
- 81424 Prenatal
Aneuploidy Detection, FISH
- 81409 Newborn Aneuploidy
Detection, FISH
- 81081 Aneuploidy
Detection, Products of Conception (POC), FISH
- 80602 Chromosome
Anomalies, Unspecified Miscellaneous with Chromosome-Specific FISH
Probes
- 82583 Subtelomeric
Region Anomalies, FISH*
- 88535 Wolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH
- 88536 Cri-du-chat Syndrome, 5p15.2 Deletion, FISH
- 81163 Williams Syndrome, 7q11.23 Deletion, FISH
- 80766 15q11.2 Deletion/Duplication, Prader-Willi and Angelman Syndromes, FISH
- 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.
- 88534 Smith-Magenis Syndrome, 17p11.2 Deletion/Duplication, FISH
- 88533 Miller-Dieker Syndrome, 17p13.3 Deletion, FISH
- 83359 Neurofibromatosis Type 1, 17q11.2 Deletion, FISH
- 81129 22q11.2
Deletion/Duplication, FISH
- 88540 Kallmann Syndrome, Xp22.3 Deletion, FISH
- 88538 X-Inactivation (XIST), Xq13.2 Deletion, FISH
- 88539 Steroid
Sulfatase Deficiency, 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.
- 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 or infertile XY males. 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.
- 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
- 80766 15q11.2 Deletion/Duplication, Prader-Willi and Angelman Syndromes, FISH
- Not recommended as first-tier
test for diagnosis.
- 86208 15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH
- Test only appropriate to better define the extent
of a deletion of 15q11.2 originally detected by 80766.
Sex Chromosome Abnormalities
- 8696 Chromosome
Analysis, For Congenital Disorders, Blood
- 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.
- 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.
- 88538 X-Inactivation (XIST), Xq13.2 Deletion, FISH
- This test is only appropriate to characterize X-derived
structurally abnormal chromosomes.
- 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 or infertile XY males. Must be
ordered in conjunction with conventional chromosome studies (8696).
- 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 must be ordered in conjunction with
conventional chromosome studies (8696).
