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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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CMA-Targeted and Limited Karyotype - Prenatal - CVS
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 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.

This test also includes a limited 5 cell chromosome analysis to rule out triploidy, tetraploidy and rearrangements not detected by microarray such as balanced translocations and inversions. We believe that the comprehensive nature of this test eliminates the need for full chromosome analysis.

Product of Conception(POC) tests should be requested using the Cytogenetics - Products of Conception Requisition
Test Details
Test Code: 8672
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.
Technical Information
Sample & Shipping Information
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
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81228x1, 81265x1, 81266x1, 88235x1, 88261x1, 88291x1


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