Medical Genetics Test Details
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Targeted Chromosomal Microarray Analysis - Prenatal - Amniotic Fluid | ||
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Test Information: | CMA-Targeted utilizes array-based comparative genomic hybridization (aCGH) and contains 180,000 oligonucleotides for copy number analysis and SNP probes targeted for chromosomes 6, 7, 11, 14, 15, 20 and X for detection of uniparental disomy (UPD). SNP probes are also useful for the detection of triploidy. This prenatal array is very similar to what was used in the NICHD trial and is ideal for providers and patients who want detection of all well characterized deletion/duplication syndromes. CMA-Targeted includes additional syndromes that were not yet characterized when the NICHD array was designed. CMA is limited to detection of gains and losses of genomic material and will not detect low-level mosaicism, balanced translocations, inversions or point mutations in specific genes. Product of Conception(POC) tests should be requested using the Cytogenetics - Products of Conception Requisition |
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Test Details | ||
Test Code: | 8656 | |
Special Notes: |
Detailed Summary of Prenatal CMA Procedures and Reporting Guidelines: 7/2017 Parental Samples (5 cc whole blood in EDTA tubes) are required. Signed CMA consent is recommended. Maternal Cell Contamination studies will be performed in all cases when a maternal blood sample is provided. When interpretation requires parental studies, these will be performed automatically to help clarify the significance of the fetal results. Parental studies will not be performed automatically for the following fetal results but are available on a fee-for-service-basis: o Heterozygous gains and losses in genes associated with autosomal recessive disorders o Heterozygous gains and losses in a female fetus of genes associated with X-linked recessive disorders o Heterozygous gains and losses classified as likely benign o Gains and losses suggestive of an unbalanced rearrangement that require parental studies by FISH or chromosome analysis to assess for parental balanced rearrangements o Gains and losses associated with well-characterized deletion/duplication syndromes (i.e., DiGeorge syndrome, Williams Syndrome, Prader-Willi syndrome) The following copy number changes will not be reported based on information available at reporting: o Gains and losses less than 1000 kb (1Mb) without any genes in the region o Gains less than 500kb with genes but no known clinical relevance o Gains of KAL1, 15q11.2 BP1-BP2, NPHP1, STS o Gains and losses in the Mitochondrial Genome o Gains and losses in AZFa & AZFb o Gains and losses associated with adult-onset disorders1, 2 for which treatment is unavailable Additional testing recommendations for absence of heterozygosity (AOH) detected on prenatal CMA: o Baylor Genetics will alert the client of any pertinent AOH result and UPD testing recommendations. UPD is available as a pass through service, payable by the client to the other laboratory according to that lab's policies. If UPD testing is elected within 14 days of the notification, Baylor Genetics will provide fetal cultures to the client's choice of outside lab; additional forms may be needed. Parental EDTA blood or extracted DNA samples are required for fetal UPD analysis. Baylor Genetics will work with your office to ensure parental samples are available if specimens were sent as controls for other studies. The turnaround time for UPD analysis is between 3-4 weeks, not including culture time, and results will be reported in an updated CMA report. 1 Gains and losses associated with medically actionable findings for select genes will be reported as noted in the consent form. 2 The American College of Medical Genetics (ACMG) has published guidelines for the reporting of these types of medically actionable or incidental findings (PMID: 23788249, 27854360) __________________________________________________________________________________ * Turn Around Time: If cell culture is required, the turnaround time will be longer. However, every attempt will be made to report on direct specimens including the use of whole genome amplification (WGA). - If WGA is required, the TAT may be increased by 1-2 days - If parental CMA is required, the TAT will be increased by 3-4 days If culturing is required, the TAT may be 3-4 weeks depending on culture growth. |
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Technical Information |
Sample & Shipping Information | ||
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Test Requisition: | Prenatal CMA and Cytogenetics | |
Specimen Type: | Specimen Information | |
Requirements: | Requirements Information | |
Shipping Conditions: | Ship at ambient temperature in an insulated container by overnight courier. |
Turn Around Time: | 7-10 days* (Refer to the special notes section) | |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81228x1, 81265x1, 81266x1 |