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Cytogenomic SNP Microarray : 1003965
MessagePlease submit completed Postnatal Clinical Information Form. Contact med fusion Client Services for form.
Test Code
MDFCPCSNPM or 1003965
Alias/See Also
Microarray; Oligo Array; Oligo-based array; SNP array; array CGH; aCGH; chromosomal microarray; chromosome microarray; cytogenetic microarray
CPT Codes
81229
Instructions
Peripheral Blood in a green top sodium heparin tube or a lavender top tube (EDTA).
Transport Container
Transport 5 mL whole blood. (Min: 1 mL)
Transport Temperature
Ambient. Transport ASAP to lab.
Specimen Stability
Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Methodology
Cytogenomic Microarray SNP (Oligo-based array)
Setup Schedule
Friday
Report Available
8-16 days
Limitations
Laboratory test results should always be considered in the context of clinical observations. This test was developed and its performance characteristics determined by med fusion. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.
Reference Range
An interpretive report will be provided.
Clinical Significance
Identification of underlying genetic imbalances is essential for diagnosing congenital abnormalities and developmental disabilities. Several genetic mechanisms are known to cause alteration of the genetic balance, for e.g. change in copy number of the genes due to gain or loss of the genetic material likely results in a clinical situation. Conventional cytogenetic techniques such as karyotyping are limited in their ability to detect subtle/cryptic microduplication and microdeletion of the chromosomal regions which effectively results in change of the gene dosage. These abnormalities can be identified by microarray-SNP analysis. Additionally, uniparental disomy, loss of heterozygosity and genomic region identical-by-descent can also be detected by microarray based methodologies, which may indicate risk of recessive disorders.
The American college of Medical Genetics (ACMG) has recommended that array-based testing be used as a first-tier test for the indication of intellectual disability, developmental delay, dysmorphic features, congenital anomalies, and autism.
The American college of Medical Genetics (ACMG) has recommended that array-based testing be used as a first-tier test for the indication of intellectual disability, developmental delay, dysmorphic features, congenital anomalies, and autism.
Performing Laboratory
med fusion