Microarray and karyotype
| 100 | Rapid microarray (CGH and SNP) |
| 200 | Standard karyotype |
| 204 | Karyotype for mosaicism (pediatric) |
| 210 | 5-cell karyotype + microarray bundle |
Other Studies
| 7500 | Maternal cell contamination studies |
Familial Studies
| 230 | 5-cell karyotype (parent or family member of proband) |
| 330 | Locus-specific FISH (parent or family member of proband) |
| 900 | Parental testing (general) |
Molecular testing is offered through our partner laboratories at this time. Tests listed represent a selection of commonly ordered tests that complement the cytogenetics/molecular cytogenetics test menu. Extensive testing options including whole exome sequencing, single gene sequencing, smaller disease-specific tests/panels, and uniparental disomy are also available. Please inquire at 844-ALLELE2 (255-3532) if the testing you desire is not listed specifically on this test menu.
Exome Testing
Single Gene Testing
| 8560 | Known mutation evaluation |
| 8830 | Single gene sequencing |
| 8835 | Single gene sequencing and deletion/duplication analysis |
Phenotype-Based Panels
| 8230 | Congenital hypotonia panel |
| 8280 | Custom NGS panel |
Syndrome-Based Testing
| 8115 | Beckwith-Wiedemann syndrome |
| 8380 | Fragile X CGG repeat analysis |
| 8381 | Fragile X CGG repeat analysis for buccal specimens |
| 8750 | Prader-Willi/Angelman syndrome methylation testing |