LP208608-2
Marker & derivative chromosome analysis
Active
Description
Chromosome complex structural aberration analysis by cytogenetic methods can include spectral karyotyping (SKY), multiplex (M)-FISH and C-banding techniques to identify complex aberrations such as unbalanced translocations and chromosome rearrangements. Both SKY and M-FISH involve "painting" each chromosome a different color using 24 unique fluorochromes and then using the colors to identify subtle structural variations that previously could not be detected. C-banding is a technique that stains constitutive heterochromatin, which is present in centromeric and telomeric DNA, as well as specific other regions of certain chromosomes, such as the Y chromosome. According to one study, M-FISH has been able to identify chromosome abnormalities in up to 7% of patients with previously unexplained mental retardation. Complex structural aberration analysis can be the next step in evaluation when an abnormality is detected but cannot be further identified using more common methods, and the advanced methodologies are being utilized in different domains, including prenatal diagnosis as well as solid and hematologic malignancies. PMID: 12360235 Source: Regenstrief LOINC , PMID: 12360235
Basic Part Properties
- Part Name
- Marker & derivative chromosome analysis
- Part Display Name
- Marker and derivative chromosome analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-30
- Construct for LOINC Short Name
- Mar + der chrom analy
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Analisi del cromosoma marcatore & derivativo |
| zh-CN | Chinese (China) | 标记染色体与衍生染色体分析 Synonyms: 标记与衍生染色体分析; |
| es-ES | Spanish (Spain) | Análisis cromosómico de marcadores y derivativos |
| el-GR | Greek (Greece) | Ανάλυση δεικτών και παραγώγων χρωμοσωμάτων Synonyms: Ανάλυση δεικτών και παραγώγων χρωμοσωμάτων |
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